IPN Mutations

last updated  17-Feb-11

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Title	A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.
Authors	Abe KT, Lino AM, Hirata MT, Pavanello RC, Brotto MW, Marchiori PE, Zatz M
Reference	Neuromuscul Disord 14: 313-320, 2004 (PubMed ID: 15099590 )
	PMP22: (Cys109X)
	Mutations

Title	Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.
Authors	Abrams CK, Freidin M, Bukauskas F, Dobrenis K, Bargiello TA, Verselis VK, Bennett MV, Chen L, Sahenk Z
Reference	J Neurosci 23: 10548-10558, 2003 (PubMed ID: 14627639 )
	GJB1 (Cx32): (Val181Ala)
	Mutations

Title	Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene.
Authors	Ainsworth PJ, Bolton CF, Murphy BC, Stuart JA, Hahn AF, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloglu H,
Reference	Hum Genet 103: 242-244, 1998 (PubMed ID: 9760211 )
	PMP22: (Ser72Pro) GJB1 (Cx32): (Deletion of complete coding region)
	Mutations

Title	Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
Authors	Ammar N, Nelis E, Merlini L, Barisic N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P
Reference	Neuromuscul Disord 13: 720-728, 2003 (PubMed ID: 14561495 )
	GDAP1: ([Glu114fs]+[Leu239Phe]) ([Arg120Trp]+[Gly271Arg]) ([Arg161His]+[Arg161His]) ([Arg282Cys]+[Arg282Cys])
	Mutations

Title
Authors	Ananth U, Athena Diagnostics Inc.
Reference	personal data : , 1999
	GJB1 (Cx32): (Trp3X) (Gly12Gly) (Ile30Phe) (Ile30Thr) (Ile30Met) (Met34Ile) (Trp44X) (Phe51Leu) (Gly59Arg) (Cys60Ser) (Cys60Arg) (Phe69Leu) (Pro70Ala) (Pro70Ser) (Ser72Phe) (Trp77Leu) (Leu81His) (Leu89Val) (Val91Met) (Val91Ala) (Ala96Val) (Leu106Leu) (Leu131Pro) (Leu131Leu) (Thr134Asn) (Ser138Gly) (Ala147Ala) (Pro158Leu) (Ala161Ala) (Cys168Tyr) (Asp169Asp) (Ile213Val)
	Mutations

Title	Familial dysautonomia is caused by mutations of the IKAP gene.
Authors	Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY
Reference	Am J Hum Genet 68: 753-758, 2001 (PubMed ID: 11179021 )
	IKBKAP: ([Arg696Pro]+[5'-splice site (skipping ex20)]) ([5'-splice site]+[5'-splice site])
	Mutations

Title	A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.
Authors	Andrigo C, Boito C, Prandini P, Mostacciuolo ML, Siciliano G, Angelini C, Pegoraro E
Reference	Neurogenetics 6: 49-50, 2005 (PubMed ID: 15654615 )
	NEFL: (Glu525fs)
	Mutations

Title	Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
Authors	Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin S-Q, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED
Reference	Am J Hum Genet 72: 1293-1299, 2003 (PubMed ID: 12690580 )
	GARS: (Glu71Gly) (Leu129Pro) (Gly240Arg) (Gly526Arg)
	Mutations

Title	Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.
Authors	Auer-Grumbach M, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K.
Reference	Neurology 61: 1435-1437, 2003 (PubMed ID: 14638973 )
	MPZ (P0): (Asp60His) (Ile62Met)
	Mutations

Title	Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma
Authors	Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche H, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E
Reference	Am J Hum genet 72: 1141-1153, 2003 (PubMed ID: 12687498 )
	SBF2 (MTMR13): ([Gln956X]+[Gln956X]) ([Arg1196X]+[Arg1196X])
	Mutations

Title	Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
Authors	Azzedine H, Ruberg M, Ente D, Gilardeau C, Perie S, Wechsler B, Brice A, LeGuern E, Dubourg O
Reference	Neuromuscul Disord 13: 341-346, 2003 (PubMed ID: 12868504 )
	GDAP1: ([Ser194X]+[Arg310Gln])
	Mutations

Title	Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
Authors	Azzedine H, Ravise N, Verny C, Gabreels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E
Reference	Neurology 67: 602-606, 2006 (PubMed ID: 16924012 )
	SH3TC2 (KIAA1985): ([Ala73fs]+[Glu731fs]) ([Trp307X]+[Arg1109Pro]) ([3'-splice site]+[3'-splice site]) ([Arg658Cys]+[Arg658Cys]) ([Leu662Pro]+[Arg954X]) ([Asn881Ser]+[Arg954X]) ([Arg904X]+[Arg904X]) ([Arg954X]+[Arg954X])
	Mutations

Title	Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
Authors	Bähr M, Andres F, Timmerman V, Nelis E, Van Broeckhoven C, Dichgans J
Reference	J Neurol Neurosurg Psychiatry 66: 202-206, 1999 (PubMed ID: 10071100 )
	GJB1 (Cx32): (Asn205Ser)
	Mutations

Title	Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).
Authors	Baloh RH, Jen JC, Kim G, Baloh RW
Reference	Neurology 62: 1905-1906, 2004 (PubMed ID: 15159512 )
	MPZ (P0): (Thr124Met)
	Mutations

Title	GDAP1 mutations in Czech families with early-onset CMT.
Authors	Barankova L, Vyhnalkova E, Zuchner S, Mazanec R, Sakmaryova I, Vondracek P, Merlini L, Bojar M, Nelis E, De Jonghe P, Seeman P
Reference	Neuromuscul Disord 17: 482-489, 2007 (PubMed ID: 17433678 )
	GDAP1: ([Arg191X]+[Leu239Phe]) ([Leu239Phe]+[Leu239Phe])
	Mutations

Title	X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter.
Authors	Basri R, Yabe I, Soma H, Matsushima M, Tsuji S, Sasaki H
Reference	Intern Med 46: 1023-1027, 2007 (PubMed ID: 17603245 )
	GJB1 (Cx32): (Arg142Trp)
	Mutations

Title	Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
Authors	Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM
Reference	Nat Genet 30: 21-22, 2002 (PubMed ID: 11743579 )
	GDAP1: ([Trp31X]+[Trp31X]) ([Arg161His]+[Arg161His]) ([Ser194X]+[Ser194X])
	Mutations

Title	Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
Authors	Beauvais K, Furby A, Latour P
Reference	Neuromuscul Disord 16: 14-18, 2006 (PubMed ID: 16373087 )
	GJB1 (Cx32): (-) LITAF: (Thr49Met)
	Mutations

Title	SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
Authors	Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr.
Reference	Nat Genet 27: 261-262, 2001 (PubMed ID: 11242106 )
	SPTLC1: (Cys133Tyr) (Cys133Trp)
	Mutations

Title	Identification of a 4 bp deletion (1560del4) in Po gene in a family with severe Charcot-Marie-Tooth disease.
Authors	Bellone E, Mandich P, James R, Nelis E, Lamba LD, Van Broeckhoven C, Ajmar F
Reference	Hum Mutat 7: 377-378, 1996 (PubMed ID: 8723697 )
	MPZ (P0): (Ser233fs)
	Mutations

Title	A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
Authors	Bellone E, Di Maria E, Soriani S, Varese A, Lamba Doria L, Ajmar F, Mandich P
Reference	Hum Mutat 14: 353-354, 1999 (PubMed ID: 10502832 )
	EGR2: (Asp355Val)
	Mutations

Title	Novel MPZ Mutation In A Sporadic CMT Patient.
Authors	Bellone E, Cassandrini D, Di Maria E, Balestra P, Grandis M, Mancardi GL, Schenone A, Ajmar F, Mandich P
Reference	J Peripher Nerv Syst 6: 41, 2001
	MPZ (P0): (Asp61Asn)
	Mutations

Title	An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.
Authors	Bellone E, Balestra P, Ribizzi G, Schenone A, Zocchi G, Di Maria E, Ajmar F, Mandich P
Reference	J Neurol Neurosurg Psychiatry 77: 538-540, 2006 (PubMed ID: 16199442 )
	PMP22: (5'-splice site)
	Mutations

Title	Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
Authors	Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC
Reference	J Neurol Neurosurg Psychiatry 76: 1019-1021, 2005 (PubMed ID: 15965218 )
	LMNA: (Arg571Cys)
	Mutations

Title	SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Authors	Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, Chance PF
Reference	Ann Neurol 55: 713-720, 2004 (PubMed ID: 15122712 )
	LITAF: (Ile74Ile) (Gly112Ser) (Trp116Gly)
	Mutations

Title
Authors	Bergmann
Reference	personal data : , 2002
	GJB1 (Cx32): (Val35Met) (Val43Met) (Glu102del) (Glu102del)
	Mutations

Title	A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.
Authors	Bergmann C, Schroder JM, Rudnik-Schoneborn S, Zerres K, Senderek J
Reference	Mol Brain Res 88: 183-185, 2001 (PubMed ID: 11295246 )
	GJB1 (Cx32): (-)
	Mutations

Title	Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).
Authors	Bergmann C, Zerres K, Rudnik-Schoneborn S, Eggermann T, Schroder JM, Senderek J
Reference	J Med Genet 39: e58, 2002 (PubMed ID: 12205128 )
	GJB1 (Cx32): (-)
	Mutations

Title	Connexin mutations in X-linked Charcot-Marie-Tooth disease.
Authors	Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH
Reference	Science 262: 2039-2042, 1993 (PubMed ID: 8266101 )
	GJB1 (Cx32): (Gly12Ser) (Val139Met) (Arg142Trp) (Leu156Arg) (Pro172Ser) (Asn175fs) (Glu186Lys)
	Mutations

Title	Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.
Authors	Bi H, Gao Y, Yao S, Dong M, Headley AP, Yuan Y.
Reference	Neuropathology 27: 429-433, 2007 (PubMed ID: 18018475 )
	SPTLC1: (Cys133Trp)
	Mutations

Title	GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Authors	Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C
Reference	J Neurol 253: 1234-1235, 2006 (PubMed ID: 16607474 )
	GDAP1: ([Met116Arg]+[Met116Arg])
	Mutations

Title	Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation
Authors	Bienfait HM, Baas F, Gabreels-Festen AA, Koelman JH, Langerhorst CT, de Visser M
Reference	Neuromuscul Disord 12: 281-285, 2002 (PubMed ID: 11801400 )
	MPZ (P0): ([His81Tyr;Val113Phe])
	Mutations

Title	Phenotypes of three families with different Cx32 mutations.
Authors	Bienfait HME, Baas F, Vreijling J, Hoogendijk JE, Gabreëls-Festen AAWM, de Visser M
Reference	J Peripher Nerv Syst 4: 286-287, 1999
	GJB1 (Cx32): (Ile28Asn) (Arg75Gln)
	Mutations

Title	Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.
Authors	Bienfait HM, Faber CG, Baas F, Gabreels-Festen AA, Koelman JH, Hoogendijk JE, Verschuuren JJ, Wokke JH, de Visser M
Reference	J Neurol Neurosurg Psychiatry 77: 534-537, 2006 (PubMed ID: 16543539 )
	MPZ (P0): (Tyr82His)
	Mutations

Title	Phenotype of Charcot-Marie-Tooth disease Type 2.
Authors	Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M
Reference	Neurology 68: 1658-1667, 2007 (PubMed ID: 17502546 )
	BSCL2: (Asn88Ser) MFN2: (Gln45Arg)
	Mutations

Title
Authors
Reference	personal data : , 2007
	PRX: ([Leu59Pro]+[Cys715X])
	Mutations

Title	Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
Authors	Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E
Reference	Arch Neurol 60: 598-604, 2003 (PubMed ID: 12707075 )
	GDAP1: ([Ser194X]+[Ser194X])
	Mutations

Title	Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].
Authors	Bissar-Tadmouri N, Gulsen-Parman Y, Latour P, Deymeer F, Serdaroglu P, Vandenberghe A, Battaloglu E
Reference	Hum Mutat (Online) 14: 449, 1999 (PubMed ID: 10533074 )
	MPZ (P0): (Ile30delinsGlyValTyrThr) (Ser54Pro)
	Mutations

Title	Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.
Authors	Bissar-Tadmouri N, Parman Y, Boutrand L, Deymeer F, Serdaroglu P, Vandenberghe A, Battaloglu E
Reference	Clin Genet 58: 396-402, 2000 (PubMed ID: 11140841 )
	PMP22: (Ser72Leu) (Pro122fs) GJB1 (Cx32): (Val91Met) (Asp169Asp) (Tyr211His)
	Mutations

Title	Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene.
Authors	Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Corbillon E, Chazot G, Vandenberghe A
Reference	Clin Genet 48: 281-283, 1995 (PubMed ID: 8835320 )
	MPZ (P0): (Ser63Phe)
	Mutations

Title	Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po.
Authors	Blanquet-Grossard F, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Diraison P, Chapon F, Chazot G, Vandenberghe A
Reference	Hum Mutat 8: 185-186, 1996 (PubMed ID: 8844219 )
	MPZ (P0): (Asn122Ser)
	Mutations

Title	Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
Authors	Bodzioch M, Lapicka K, Aslanidis C, Kacinski M, Schmitz G
Reference	Hum Mutat 17: 72, 2001 (PubMed ID: 11139246 )
	NTRK1 (TRKA): ([5'-splice site]+[His604Tyr;Gly613Val;Glu615X;Val617Leu])
	Mutations

Title	Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Authors	Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR
Reference	Am J Hum Genet 68: 325-333, 2001 (PubMed ID: 11133365 )
	PRX: (Thr102Thr) ([Arg368X]+[Val763fs]) (Ala406Thr) (Glu495Gln) (Pro497Pro) (Val882Ala) (Pro885Pro) (Ile921Met) ([Ser929fs]+[Ser929fs]) ([Ser929fs]+[Arg953X]) (Pro1083Arg) (Gly1132Arg) (Glu1259Lys) (Glu1359del)
	Mutations

Title	EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
Authors	Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR
Reference	Neurogenetics 3: 153-157, 2001 (PubMed ID: 11523566 )
	EGR2: (Arg359Trp)
	Mutations

Title	Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation
Authors	Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR
Reference	Ann Neurol 51: 190-201, 2002 (PubMed ID: 11835375 )
	PMP22: (Trp28Arg) (Leu71Pro) (Ser72Leu) (Gly94fs) MPZ (P0): (Ser78Leu) (Ser78Leu) (Tyr82Cys) (Ile89Asn+Val92Met+Ile162Met) (Gly123Cys) (Val136Glu) GJB1 (Cx32): (Arg15Trp) (Arg22Gln) (Glu102Gly) (Leu108Pro) (Asn205Ile) (Arg215Trp)
	Mutations

Title	CMT4A: Identification of a Hispanic GDAP1 founder mutation.
Authors	Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR.
Reference	Ann Neurol 53: 400-405, 2003 (PubMed ID: 12601710 )
	GDAP1: ([Arg120Gln]+[Arg120Gln]) ([Gln163X]+[Gln163X])
	Mutations

Title	Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
Authors	Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MAM, Georgiou DM, Christodoulou K, Hausmanova-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco A
Reference	Nat Genet 25: 17-19, 2000 (PubMed ID: 10802647 )
	MTMR2: ([Glu276X;Phe494_Glu531del]+[Glu276X;Phe494_Glu531del]) ([Gln426X]+[Gln426X]) ([Gln482X]+[Arg477X]) ([Tyr579fs]+[Tyr579fs])
	Mutations

Title	Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
Authors	Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR
Reference	Neurogenetics 3: 107-109, 2001 (PubMed ID: 11354824 )
	MTMR2: (Thr3Lys) ([Ala100Thr]+[?]) (Thr377Thr) (Thr411Thr) (Glu502Gln) ([Asn545Ser]+[?]) ([Ala602Gly]+[?])
	Mutations

Title	The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Authors	Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüyüz B, Landrieu P, Hentati F, Koenig M
Reference	Nat Genet 26: 370-374, 2000 (PubMed ID: 11062483 )
	GAN: ([Val7fs]+[Val7fs]) ([Arg15Ser]+[Arg15Ser]) ([Ser52Gly]+[Cys393X]) ([Ser79Leu]+[?]) ([Val82Phe]+[?]) ([Arg138His]+[Arg138His]) (Arg269Gln) ([Arg293X]+[Cys570Tyr]) ([Leu309Arg]+[Leu309Arg]) (-) ([Trp401X]+[Glu486Lys]) (Tyr431Tyr) ([Gln483X]+[Gln483X]) ([Glu486Lys]+[Glu486Lys]) ([Arg545Cys]+[Arg545Cys])
	Mutations

Title	Identification of seven novel mutations in the GAN gene.
Authors	Bomont P, Ioos C, Yalcinkaya C, Korinthenberg R, Vallat JM, Assami S, Munnich A, Chabrol B, Kurlemann G, Tazir M, Koenig M
Reference	Hum Mutat 21: 446, 2003 (PubMed ID: 12655563 )
	GAN: ([Ile86Phe]+[Leul114_Thr119del]) ([Arg242X]+[Arg242X]) (Arg269Gln) ([Lys338X]+[del]) ([Gly368Arg]+[Gly368Arg]) ([Arg477X]+[Arg477X])
	Mutations

Title	New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
Authors	Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, Fischbeck KH
Reference	Neurology 45: 1863-1866, 1995 (PubMed ID: 7477983 )
	GJB1 (Cx32): (Val13Leu) (Ile30Asn) (Tyr65Cys) (Val95Met) (Trp133Arg) (Ile137fs) (Val139Met) (Leu156Arg) (Arg220X)
	Mutations

Title	Connexin32 and X-linked Charcot-Marie-Tooth disease.
Authors	Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS
Reference	Neurobiol Dis 4: 221-230, 1997 (PubMed ID: 9361298 )
	GJB1 (Cx32): (Val13Met) (Asn14Lys) (His16Pro) (Ile20Ser) (Gly21Asp) (Arg22Gln) (Ser26Leu) (Ile28Asn) (Ile28Thr) (Phe29Leu) (Met34Val) (Glu41Lys) (Trp44Leu) (Val63Ile) (Arg75Trp) (Arg75Pro) (Trp77X) (Gln80X) (Ser85Phe) (Thr86Ser) (Thr86Asn) (Pro87Leu) (His94Tyr) (His94Gln) (Val95Met) (His100Tyr) (Lys103Glu) (Arg107Trp) (Lys124fs) (Lys124Asn) (Ser128Pro) (Arg142Gln) (Tyr154X) (Tyr157Cys) (Pro158Arg) (Tyr160His) (Ala161Pro) (Arg164Gln) (Pro172Leu) (Asp178Tyr) (Cys179Arg) (Phe180Leu) (Val181Met) (Arg183Cys) (Arg183His) (Thr185del) (Lys187Glu) (Val189Ile) (Val189Gly) (Thr191_Phe193del) (Thr191fs) (Thr191_Phe193del) (Phe193Cys) (Ser198Phe) (Cys201Arg) (Leu204Val) (Asn205Ser) (Arg219Cys) (Arg219His) (Arg220Gly) (Arg230Cys) (Arg230Leu) (Phe235Cys) (Pro267fs)
	Mutations

Title	An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
Authors	Bonkowsky JL, Johnson J, Carey JC, Smith AG, Swoboda KJ
Reference	Pediatrics 112: e237-e241, 2003 (PubMed ID: 12949319 )
	NTRK1 (TRKA): ([Leu213Pro]+[Gly519fs)
	Mutations

Title	Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Authors	Bort S, Nelis E, Timmerman V, Sevilla T, Cruz-Martinez A, Martinez F, Millan JM, Arpa J, Vilchez JJ, Prieto F, Van Broeckhoven C, Palau F
Reference	Hum Genet 99: 746-754, 1997 (PubMed ID: 9187667 )
	PMP22: (5'-splice site) (Gly100Arg) (Cys109Cys) (Ile137Val) MPZ (P0): (Ser78Leu) (Arg98Cys) (3'-splice site) (Arg185fs) (Gly200Gly) (Pro205fs) (Ser228Ser) (Arg244Leu) GJB1 (Cx32): (Val23Ala) (Cys64Ser) (Pro87Ser) (Arg164Trp) (Arg164Gln) (Arg183Ser) (Arg183Cys) (Arg183His) (Arg215Trp)
	Mutations

Title	Dejerine-Sottas neuropathy associated with de novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene.
Authors	Bort S, Sevilla T, Garcia-Planells J, Blesa D, Paricio N, Vilchez JJ, Prieto F, Palau F
Reference	Hum Mutat Suppl1: S95-98, 1998 (PubMed ID: 9452053 )
	PMP22: (Ser79Pro)
	Mutations

Title	Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
Authors	Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, Leguern E
Reference	Brain Epub ahead of print: , 2007 (PubMed ID: 17347251 )
	GDAP1: ([Ser194X]+[Ser194X]) LMNA: ([Arg298Cys]+[Arg298Cys])
	Mutations

Title	Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia
Authors	Bouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M
Reference	Journal of Medical Genetics 43: 441-443, 2006 (PubMed ID: 16399879 )
	CCT5: ([His147Arg]+[His147Arg])
	Mutations

Title	Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Authors	Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C
Reference	Neurology 62: 13-16, 2004 (PubMed ID: 14718689 )
	GAN: ([Val7fs]+[Tyr299Cys]) ([Ala49Thr]+[Pro315Leu]) ([5'-splice site]+[Leu510X]) ([Pro562Ala]+[Pro562Ala])
	Mutations

Title	Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy.
Authors	Burns TM, Phillips LH 2nd, Dimberg EL, Vaught BK, Klein CJ
Reference	Neuromuscul Disord. 2006 May;16(5):308-10 16: 308-310, 2006 (PubMed ID: 16616847 )
	MPZ (P0): (Arg36Trp)
	Mutations

Title	A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy
Authors	Carvalho OP, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG
Reference	Journal of Medical Genetics 48: 131-135, 2011 (PubMed ID: 20978020 )
	NGFB: ([Thr227fs]+[Thr227fs])
	Mutations

Title	Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
Authors	Casasnovas C, Banchs I, Corral J, Martínez-Matos JA, Volpini V.
Reference	Clin Genet 70: 516-523, 2006 (PubMed ID: 17100997 )
	GJB1 (Cx32): (Tyr7Cys) (Val23Ala) (Ala39fs) (Glu47Gly) (Cys53Ser) (Val63Ile) (Phe69Leu) (Arg75Trp) (Ala147Ala) (Phe153fs) (Arg164Trp) (Arg164Gln) (Asp169Asp) (Cys179Tyr) (Val181Met) (Arg183His) (Cys201Arg) (Cys201Phe) (Tyr211His) (Leu212fs) (Ile214Asn)
	Mutations

Title	Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations.
Authors	Castro C, Gómez-Hernandez JM, Silander K, Barrio LC
Reference	J Neurosci 19: 3752-3760, 1999 (PubMed ID: 10234007 )
	GJB1 (Cx32): (Cys280Gly)
	Mutations

Title	Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
Authors	Ceuterick-de Groote C, De Jonghe P, Timmerman V, Van Goethem G, Löfgren A, Ceulemans B, Van Broeckhoven C, Martin JJ
Reference	Pathol Res Pract 197: 193-198, 2001 (PubMed ID: 11314784 )
	PMP22: (Ser72Leu)
	Mutations

Title	DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
Authors	Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD
Reference	Cell 72: 143-151, 1993 (PubMed ID: 8422677 )
	PMP22: (HNPP deletion)
	Mutations

Title	Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.
Authors	Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A
Reference	J Neurol Neurosurg Psychiatry 66: 779-782, 1999 (PubMed ID: 10329755 )
	MPZ (P0): (Thr124Met)
	Mutations

Title	DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4).
Authors	Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF
Reference	Am J Hum Genet 74: online pub, 2004 (PubMed ID: 15106121 )
	ALS4 (SETX): (Thr3Ile) (Leu389Ser) (Arg2136His)
	Mutations

Title	Mutational studies in X-linked Charcot-Marie-Tooth disease (CMTX).
Authors	Cherryson AK, Yeung L, Kennerson ML, Nicholson GA
Reference	Am J Hum Genet 56: A216, 1994
	GJB1 (Cx32): (Val35Met) (His111_His116del) (Pro158Ala) (Ser182Thr)
	Mutations

Title	Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.
Authors	Cho HJ, Sung D, Kim B, Ki CS
Reference	Clin Genet 71: 267-272, 2007 (PubMed ID: 17309650 )
	MFN2: (Arg94Trp) (His165Arg) (Ser263Pro) (Ser350Pro)
	Mutations

Title	Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.
Authors	Cho HJ, Kim BJ, Suh YL, An JY, Ki CS
Reference	J Hum Genet 51: 905-908, 2006 (PubMed ID: 16946995 )
	WNK1/HSN2: ([Gln73X]+[Asp379fs])
	Mutations

Title	Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with silver syndrome and distal hereditary motor neuropathy.
Authors	Cho HJ, Sung DH, Ki CS
Reference	Muscle Nerve : Epub ahead of print, 2007 (PubMed ID: 17486577 )
	BSCL2: (Ser90Leu)
	Mutations

Title	Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Authors	Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW
Reference	Hum Mutat 24: 185-186, 2004 (PubMed ID: 15241803 )
	PMP22: (Ala106fs) MPZ (P0): (Asp118Asn) (3' splice site) (Lys236Glu) GJB1 (Cx32): (Leu10Leu) (Arg164Gln) (Cys168Arg) (Ser198Ser) EGR2: (Arg359Trp) (Arg362Arg) NEFL: (Gln93Gln) (Leu333Pro) (Glu396Lys)
	Mutations

Title	Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Authors	Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH
Reference	Nature 448: 68-72, 2007 (PubMed ID: 17572665 )
	FIG4: ([Ile41Thr]+[Phe98fs]) ([Ile41Thr]+[Arg183X]) ([Ile41Thr]+[Gly253fs]) ([Ile41Thr]+[Asp348fs])
	Mutations

Title	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
Authors	Chung KW, Sunwoo IN, Kim SM, Park KD, Kim WK, Kim TS, Koo H, Cho M, Lee J, Choi BO
Reference	Neurogenetics 6: 159-163, 2005 (PubMed ID: 15947997 )
	GJB1 (Cx32): (GJB1:[Val136Ala]+EGR2:[Arg359Trp]) EGR2: (Arg359Trp) ([EGR2:Arg359Trp]+[GJB1:Val136Ala])
	Mutations

Title	Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
Authors	Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO
Reference	Brain 129: 2103-2118, 2006 (PubMed ID: 16835246 )
	MFN2: (Leu92Pro) (Arg94Trp) (Thr105Met) (Gly127Asp) (His165Arg) (Ser263Pro) (Arg280His) (Thr362Met) (Arg364Trp) (Met376Thr)
	Mutations

Title	Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.
Authors	Claramunt R, Pedrola L, Sevilla T, Lopez de Munain A, Berciano J, Cuesta A, Sanchez-Navarro B, Millan JM, Saifi GM, Lupski JR, Vilchez JJ, Espinos C, Palau F
Reference	J Med Genet 42: 358-365, 2005 (PubMed ID: 15805163 )
	GDAP1: ([Glu114fs]+[Gln163X]) (Arg120Trp) (Thr157Pro)
	Mutations

Title	The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
Authors	Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C
Reference	Clin Genet 71: 343-349, 2007 (PubMed ID: 17470135 )
	NDRG1: ([Arg148X]+[Arg148X]) SH3TC2 (KIAA1985): ([Cys737_Pro738delinsX]+[Arg1109X]) ([Arg1109X]+[Arg1109X])
	Mutations

Title	Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
Authors	Coen K, Pareyson D, Auer-Grumbach M, Buyse G, Goemans N, Claeys KG, Verpoorten N, Laura M, Scaioli V, Salmhofer W, Pieber TR, Nelis E, De Jonghe P, Timmerman V.
Reference	Neurology 66: 748-751, 2006 (PubMed ID: 16534117 )
	WNK1/HSN2: ([Pro85fs]+[Gln364fs]) ([Gln184X]+[Gln184X]) ([Ile355fs]+[Ile355fs])
	Mutations

Title	A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).
Authors	Conforti FL, Muglia M, Mazzei R, Patitucci A, Valentino P, Magariello A, Sprovieri T, Bono F, Bergmann C, Gabriele AL, Peluso G, Nistico R, Senderek J, Quattrone A
Reference	Neurology 63: 1327-1328, 2004 (PubMed ID: 15477569 )
	SBF2 (MTMR13): ([5'-splice site]+[5'-splice site])
	Mutations

Title	The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
Authors	Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marin I, Vilchez JJ, Palau F
Reference	Nat Genet 30: 22-25, 2002 (PubMed ID: 11743580 )
	GDAP1: ([Gln163X]+[Gln163X]) ([Gln163X]+[Ser194X]) ([Gln163X]+[Thr288fs])
	Mutations

Title	Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base sununit-1, cause hereditary sensory neuropathy type 1
Authors	Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA
Reference	Nat Genet 27: 309-312, 2001 (PubMed ID: 11242114 )
	SPTLC1: (Cys133Tyr) (Cys133Trp) (Val144Asp)
	Mutations

Title	Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene.
Authors	De Angelis MV, Di Muzio A, Capasso M, Angiari C, Cavallaro T, Fabrizi GM, Rizzuto N, Uncini A
Reference	Neurology 63: 2180-2183, 2004 (PubMed ID: 15596778 )
	MPZ (P0): (Val102fs)
	Mutations

Title	The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
Authors	De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Löfgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C
Reference	Brain 122: 281-290, 1999 (PubMed ID: 10071056 )
	MPZ (P0): (Thr124Met)
	Mutations

Title	Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
Authors	De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V
Reference	Ann Neurol 49: 245-249, 2001 (PubMed ID: 11220745 )
	NEFL: (Pro8Arg)
	Mutations

Title	Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
Authors	De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N
Reference	Am J Hum Genet 70: 726-736, 2002 (PubMed ID: 11799477 )
	LMNA: ([Arg298Cys]+[Arg298Cys])
	Mutations

Title	Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.
Authors	De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Levy N, Megarbane A
Reference	J Med Genet 2003: e87, 2003 (PubMed ID: 12843336 )
	GDAP1: ([Ser162fsX166]+[Ser162fsX166]) ([Leu223X]+[Leu223X])
	Mutations

Title	Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.
Authors	Del Bo R, Locatelli F, Corti S, Scarlato M, Ghezzi S, Prelle A, Fagiolari G, Moggio M, Carpo M, Bresolin N, Comi GP
Reference	Neurology 66: 752-754, 2006 (PubMed ID: 16534118 )
	GARS: (Asp500Asn)
	Mutations

Title	Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
Authors	Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N
Reference	Am J Hum Genet 81: 1-16, 2007 (PubMed ID: 17564959 )
	FGD4: ([Met298Thr]+[Met298Thr]) ([Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs])
	Mutations

Title	Giant axonal neuropathy: clinical and genetic study in six cases.
Authors	Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G, Muftuoglu S, Cakar AN, Tan E, Aysun S, Topcu M, Guicheney P, Koenig M, Topaloglu H
Reference	J Neurol Neurosurg Psychiatry 76: 825-832, 2005 (PubMed ID: 15897506 )
	GAN: ([Arg293X]+[Arg293X]) (5'-splice site mutation)
	Mutations

Title	A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.
Authors	Di Maria E, Gulli R, Balestra P, Cassandrini D, Pigullo S, Doria-Lamba L, Bado M, Schenone A, Ajmar F, Mandich P, Bellone E
Reference	J Neurol Neurosurg Psychiatry 75: 1495-1498, 2004 (PubMed ID: 15377708 )
	GDAP1: ([Met116Arg]+[Met116Arg])
	Mutations

Title	Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation
Authors	Donaghy M, Sisodiya SM, Kennett R, McDonald B, Haites N, Bell C
Reference	J Neurol Neurosurg Psychiatry 69: 799-805, 2000 (PubMed ID: 11080236 )
	MPZ (P0): (Ile99Thr)
	Mutations

Title	The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity
Authors	Dubourg O, Tardieu S, Birouk N, Gouider R, Leger JM, Maisonobe T, Brice A, Bouche P, LeGuern E
Reference	Neuromuscul Disord 11: 458-6-463, 2001 (PubMed ID: 11404117 )
	GJB1 (Cx32): (Gly159Asp)
	Mutations

Title	Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
Authors	Dubourg O, Tardieu S, Birouk N, Gouider R, Leger JM, Maisonobe T, Brice A, Bouche P, LeGuern E
Reference	Brain 124: 1958-1967, 2001 (PubMed ID: 11571214 )
	GJB1 (Cx32): (Arg22Gln) (Ala39fs) (Leu56Phe) (Val91Met) (His94Asp) (His94Gln) (Thr130Ile) (Arg142Gln) (Arg164Trp) (Arg164Gln) (Glu186Lys) (Gly199Arg) (Arg215Trp)
	Mutations

Title	The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.
Authors	Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E
Reference	Neurology 66: 1721-1726, 2006 (PubMed ID: 16769947 )
	GARS: (Gly526Arg)
	Mutations

Title	NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.
Authors	Echaniz-Laguna A, Degos B, Bonnet C, Latour P, Hamadouche T, Levy N, Leheup B
Reference	Neuromuscul Disord. 2007 Feb;17(2):163-8 17: 163-168, 2007 (PubMed ID: 17142040 )
	NDRG1: ([Arg148X]+[Arg148X])
	Mutations

Title	Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
Authors	Echaniz-Laguna A, Nicot AS, Carré S, Franques J, Tranchant C, Dondaine N, Biancalana V, Mandel JL, Laporte J
Reference	Neuromuscul Disord. : [Epub ahead of print], 2007 (PubMed ID: 17825552 )
	DNM2: (Glu368Gln)
	Mutations

Title	Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.
Authors	Eggers SD, Keswani SC, Melli G, Cornblath DR
Reference	Muscle Nerve 29: 867-869, 2004 (PubMed ID: 15170620 )
	MPZ (P0): (Gly163Arg)
	Mutations

Title	A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
Authors	Einarsdottir E, Carlsson A, Minde J, Toolanen G, Svensson O, Solders G, Holmgren G, Holmberg D, Holmberg M
Reference	Hum Mol Genet 13: 799-805, 2004 (PubMed ID: 14976160 )
	NGFB: ([Arg221Trp]+[Arg221Trp])
	Mutations

Title	T>C transition in codon 72 (TCG-CCG), S72P, a putative hotspot in PMP22
Authors	Ekici AB, Park O, Korinthenberg R, Grehl H, Rautenstrauss B
Reference	Hum Mutat 17: 81, 2001 (PubMed ID: 11139264 )
	PMP22: (Ser72Pro)
	Mutations

Title	Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ)
Authors	Ekici AB, Schweitzer D, Park O, Lorek D, Rautenstrauss B, Krüger G, Friedl W, Uhlhaas S, Bathke K, Heuss D, Kayser C, Grehl H
Reference	Neurogenetics 3: 49-50, 2000 (PubMed ID: 11085599 )
	PMP22: (3'-splice site) MPZ (P0): (Gly110Asp) GJB1 (Cx32): (Ala39Pro)
	Mutations

Title	Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
Authors	Engelfried K, Vorgerd M, Hagedorn M, Haas G, Gilles J, Epplen JT, Meins M
Reference	BMC Med Genet 7: 53, 2006 (PubMed ID: 16762064 )
	MFN2: (Gly127Val) (Glu347Val) (Met376Ile) (Arg468His) (Val705Ile) (Leu753fs)
	Mutations

Title	Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
Authors	Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Martin J-J, Vasserman N, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K et al.
Reference	Nat Genet : online pub, 2004 (PubMed ID: 15122254 )
	HSPB1: (Arg127Trp) (Ser135Phe) (Arg136Trp) (Thr151Ile) (Pro182Leu)
	Mutations

Title	Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome.
Authors	Fabrizi GM, Cavallaro T, Morbin M, SimonatiA, Taioli F, Rizzuto N
Reference	J Neurol Neurosurg Psychiatry 66: 386-389, 1999 (PubMed ID: 10084540 )
	MPZ (P0): (Cys127Tyr)
	Mutations

Title	Divergent phenotypes associated with missense mutations of PMP22.
Authors	Fabrizi GM, Cavallaro T, Simonati A, Rigatelli F, Pinardi C, Taioli F, Mostacciuolo ML, Rizzuto N
Reference	J Peripher Nerv Syst 4: 288-289, 1999
	PMP22: (Cys109Arg)
	Mutations

Title	Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.
Authors	Fabrizi GM, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N
Reference	Neurology 53: 846-851, 1999 (PubMed ID: 10489052 )
	PMP22: (Asp37Val)
	Mutations

Title	Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.
Authors	Fabrizi GM, Taioli F, Cavallaro T, Rigatelli F, Simonati A, Mariani G, Perrone, Rizzuto N
Reference	Acta Neuropathol 100: 299-304, 2000 (PubMed ID: 10965800 )
	MPZ (P0): (Ser78Leu)
	Mutations

Title	A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
Authors	Fabrizi GM, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N
Reference	Neurology 57: 101-105, 2001 (PubMed ID: 11445635 )
	MPZ (P0): (Gly103Glu)
	Mutations

Title	Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.
Authors	Fabrizi GM, Cavallaro T, Angiari C, Bertolasi L, Cabrini I, Ferrarini M, Rizzuto N
Reference	Neurology 62: 1429-1431, 2004 (PubMed ID: 15111691 )
	NEFL: (Pro22Ser)
	Mutations

Title	Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease.
Authors	Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N. GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N.
Reference	Neurology 69: 291-295, 2007 (PubMed ID: 17636067 )
	DNM2: (Gly533Cys) (Leu566His)
	Mutations

Title	Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease.
Authors	Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE
Reference	Hum Mol Genet 3: 29-34, 1994 (PubMed ID: 8162049 )
	GJB1 (Cx32): (Arg15Gln) (Cys60Phe) (Val63Ile) (His73fs) (Leu144del) (Glu208Lys) (Arg215Trp) (Arg220X)
	Mutations

Title	Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-C), W44X(G-A)] in the connexin 32 gene.
Authors	Felice KJ, Seltzer WK
Reference	Eur Neurol 44: 61-63, 2000 (PubMed ID: 10894999 )
	GJB1 (Cx32): (Trp44X) (Gly59Arg)
	Mutations

Title	Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy.
Authors	Finsterer J, Miltenberger G, Rauschka H, Janecke A
Reference	Eur J Neurol 13: 1149-1152, 2006 (PubMed ID: 16987171 )
	MPZ (P0): (Ser20Phe)
	Mutations

Title	Mutation in the nerve-specific 5' non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family.
Authors	Flagiello L, Cirigliano V, Strazzullo M, Cappa V, Ciccodicola A, D'Esposito M, Torrente I, Werner R, Di Iorio G, Rinaldi M, Dallapiccola B, Forabosco A, Ventruto V, D'Urso M
Reference	Hum Mutat 12: 361, 1998
	GJB1 (Cx32): (-)
	Mutations

Title	New mutation of the MPZ gene in a family with the Dejerine-Sottas disease phenotype.
Authors	Floroskufi P, Panas M, Karadima G, Vassilopoulos D
Reference	Muscle Nerve 35: 667-669, 2007 (PubMed ID: 17143884 )
	MPZ (P0): (Ile30Thr)
	Mutations

Title	Identification of a novel connexin 32 mutation associated with X-linked dominant Charcot-Marie-Tooth disease.
Authors	Gabern JG, Chen K, Kant J
Reference	Neurology 46: A210, 1996
	GJB1 (Cx32): (His94Tyr)
	Mutations

Title	Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations.
Authors	Gabreëls-Festen AA, Bolhuis PA, Hoogendijk JE, Valentijn LJ, Eshuis EJ, Gabreëls FJ
Reference	Acta Neuropathol (Berl) 90: 645-649, 1996 (PubMed ID: 8615087 )
	PMP22: (Leu105Arg)
	Mutations

Title	Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
Authors	Gabreëls-Festen AA, Hoogendijk JE, Meijerink PH, Gabreëls FJ, Bolhuis PA, van Beersum S, Kulkens T, Nelis E, Jennekens FG, de Visser M, van Engelen BG, Van Broeckhoven C, Mariman EC
Reference	Neurology 47: 761-765, 1996 (PubMed ID: 8797476 )
	MPZ (P0): (Thr34Ile) (Arg98Cys) (Arg98His) (Lys130Arg) (Ile135Leu)
	Mutations

Title	A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
Authors	Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K
Reference	Neurogenetics 4: 93-93, 2002 (PubMed ID: 12481988 )
	NEFL: (Pro22Ser)
	Mutations

Title	A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.
Authors	Georgiou DM, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajsar J, Murphy J, Christodoulou K
Reference	Can J Neurol Sci 33: 311-316, 2006 (PubMed ID: 17001820 )
	GDAP1: ([Thr147fs]+[Thr147fs])
	Mutations

Title	Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies.
Authors	Geraldes R, de Carvalho M, Santos-Bento M, Nicholson G
Reference	J Neurol Sci 227: 35-38, 2004 (PubMed ID: 15546589 )
	SPTLC1: (Cys133Tyr)
	Mutations

Title	Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1.
Authors	Giannini A, Pinto AM, Rossetti G, Prandi E, Tiziano D, Brahe C, Nardocci N.
Reference	Intensive Care Med 32: 1851-1855, 2006 (PubMed ID: 16964485 )
	IGHMBP2: ([Leu40fs]+[Gly354Ser]) ([Arg130X]+[Arg130X])
	Mutations

Title	Coexistent hereditary and inflammatory neuropathy.
Authors	Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, Winer JB, Orrell RW, King RH
Reference	Brain 127: 193-202, 2004 (PubMed ID: 14607795 )
	GJB1 (Cx32): (Cys173Arg)
	Mutations

Title	A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
Authors	Goizet C, Yaou RB, Demay L, Richard P, Bouillot S, Rouanet M, Hermosilla E, Le Masson G, Lagueny A, Bonne G, Ferrer X
Reference	J Med Genet 41: e29, 2004 (PubMed ID: 14985400 )
	LMNA: (Glu33Asp)
	Mutations

Title	Polymorphism
Authors	Gokhale D
Reference	personal data : , 2001
	MPZ (P0): (Ala76Val)
	Mutations

Title	A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
Authors	Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L
Reference	J Med Genet 42: e69, 2005 (PubMed ID: 16326826 )
	SH3TC2 (KIAA1985): ([Arg1109X]+[Arg1109X])
	Mutations

Title	A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.
Authors	Greco A, Villa R, Tubino B, Romano L, Penso D, Pierotti MA
Reference	Am J Hum Genet 64: 1207-1210, 1999 (PubMed ID: 10090906 )
	NTRK1 (TRKA): ([Arg780Pro]+[Arg780Pro])
	Mutations

Title	Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Authors	Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hubner C
Reference	Nat Genet 29: 75-77, 2001 (PubMed ID: 11528396 )
	IGHMBP2: (-) ([Gln41X]+[Val225fs]) (Tyr60Tyr) ([His213Arg]+[His213Arg]) ([Leu236X]+[Leu236X]) ([Glu514Lys]+[Glu514Lys]) ([Val580Ile]+[Val580Ile]) ([5'-splice site]+[5'-splice site]) ([Thr879Lys]+[Thr879Lys]) (Thr879Lys) (-)
	Mutations

Title	Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Authors	Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmuller H, Eichholz S, Adams C, Bosch F,Steglich C, Guenther UP,Zerres K, Rudnik-Schoneborn S, Hubner C
Reference	Ann Neurol 54: 719-724, 2003 (PubMed ID: 14681881 )
	IGHMBP2: ([Lys38fs]+[Lys38fs]) ([Gln41fs]+[Arg130X]) ([Cys46X]+[Gln551fs]) ([Arg130X]+[Glu382Lys]) ([Arg147X]+[Arg788X]) ([Arg147X]+[Cys496X]) ([Leu192Pro]+[Leu426Pro]) ([Thr221Ala]+[Arg605X]) ([Leu236X]+[Cys241Arg]) ([Leu236X]+[Glu514Lys]) ([Lys328fs]+[Lys328fs]) ([Glu334Lys]+[Glu334Lys]) ([Leu361Pro]+[Leu577Pro]) ([Leu364Pro]+[Pro812fs]) ([Cys496X]+[Cys496X]) ([Cys496X]+[Asn583Ile]) ([Cys496X]+[Arg603His]) ([Asp565Asn]+[Leu577Pro]) ([Lys572del]+[Asp974Glu]) ([Gly586Cys]+[Arg637Cys]) ([Arg788X]+[?])
	Mutations

Title	Mutation analysis of the MPZ and PMP22 genes in Croatian patients.
Authors	Grskovic B, Ferencak G, Rukavina AS, Karija M, Furac I, Kubat M
Reference	Clin Chem Lab Med 40: 559-562, 2002 (PubMed ID: 12211648 )
	PMP22: (Thr118Met) MPZ (P0): (Ser8Ser)
	Mutations

Title	Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I
Authors	Guelly C, Zhu PP, Leonardis L, Papic L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M
Reference	American Journal of Human Genetics 88: 99-105, 2011 (PubMed ID: 21194679 )
	ATL1: (Glu66Gln) (Val326fs) (Asn355Lys)
	Mutations

Title	Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1.
Authors	Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hubner C, Varon R
Reference	Hum Genet 115: 319-326, 2004 (PubMed ID: 15290238 )
	IGHMBP2: ([Lys328fs]+[complex rearrangement]) ([Phe369Leu]+[Gly86_Thr353del])
	Mutations

Title	A new mutation of IGHMBP2 gene.
Authors	Guenther UP, Schuelke M, Grohmann K, Varon R.
Reference	Pediatr Neurol 34: 168, 2006 (PubMed ID: 16458836 )
	IGHMBP2: ([Thr879Lys]+[Thr879Lys])
	Mutations

Title	Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.
Authors	Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, von Au K, Schuelke M.
Reference	Hum Mutat 28: 808-815, 2007 (PubMed ID: 17431882 )
	IGHMBP2: ([Leu17Pro]+[Cys496X]) ([Gln55X]+[Gln657X]) ([Arg130X]+[Arg581Ser]) ([Gln206X]+[Leu626fs]) ([Thr221fs]+[Leu472Pro]) ([Gln302X]+[Trp386Arg]) ([5'-splice site mutation]+[Leu361Pro]) ([Trp386Arg]+[Arg605X]) ([Thr407fs]+[Arg570X]) ([Ala355fs]+[His445Pro])
	Mutations

Title	A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.
Authors	Guilbot A, Williams A, Ravise N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Megarbane A, Claustres M
Reference	Hum Mol Genet 10: 415-421, 2001 (PubMed ID: 11157804 )
	PRX: ([Arg196X]+[Arg196X])
	Mutations

Title	Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study.
Authors	Guo YC, Liao KK, Soong BW, Tsai CP, Niu DM, Lee HY, Lin KP
Reference	Eur Neurol 51: 206-214, 2004 (PubMed ID: 15159601 )
	NTRK1 (TRKA): (-)
	Mutations

Title	A point mutation in codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy.
Authors	Gupta S, Benstead T, Neumann P, Guernsey D
Reference	Hum Mutat 8: 375-376, 1996 (PubMed ID: 8956046 )
	GJB1 (Cx32): (Trp3Ser)
	Mutations

Title	Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease.
Authors	Gutierrez A, England JD, Sumner AJ, Ferer S, Warner LE, Lupski JR, Garcia CA
Reference	Muscle Nerve 23: 182-188, 2000 (PubMed ID: 10639608 )
	GJB1 (Cx32): (Arg15Trp)
	Mutations

Title	Genotype/Phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
Authors	Hahn AF, Bolton CF, White CM, Brown WF, Tuuha SE, Tan CT, Ainsworth PJ
Reference	Ann N Y Acad Sci 883: 366-382, 1999 (PubMed ID: 10586261 )
	GJB1 (Cx32): (Arg15Gln) (Ser26Leu) (Val95Met) (Asp113fs) (Val139Met) (Glu208Lys) (Cys217X)
	Mutations

Title	Pathological findings in the X-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis.
Authors	Hahn AF, Ainsworth PJ, Bolton CF, Bilbao JM, Vallat JM
Reference	Acta Neuropathol 101: 129-139, 2001 (PubMed ID: 11271367 )
	GJB1 (Cx32): (Thr55Ile) (Pro87Leu) (Arg183Cys)
	Mutations

Title	3rd workshop of the European CMT consortium: 54th ENMC international workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies, 28-30 November 1997, Naarden, The Netherlands.
Authors	Haites NE, Nelis E, Van Broeckhoven C
Reference	Neuromuscul Disord 8: 591-603, 1998 (PubMed ID: 10093067 )
	PMP22: (Leu19Pro) (Trp61X) (Thr118Met) MPZ (P0): (Val32Phe) (Ser54Cys) (Asp75fs) (Ser78Leu) (Tyr82Cys) (Arg98Cys) (Ile99Thr) (Ile112Thr) (Asp128Glu) (Thr143Met) (Ser226fs) GJB1 (Cx32): (Thr8Pro) (Ser11Gly) (Arg15Gln) (Arg22X) (Arg22Gln) (Ser26X) (Ser26Leu) (Ile30Asn) (Phe31_Arg32insIlePhe) (Ala39Pro) (Ala39Val) (Val43Met) (Gly59Cys) (Cys60Phe) (Val63Ile) (Asp66del) (Ile71fs) (Arg75Gln) (Leu81Phe) (Leu83Pro) (Val95Met) (Met105fs) (Arg107Trp) (Trp132fs) (Tyr135Cys) (Val139Met) (Phe149Ile) (Pro158Ser) (Arg164Trp) (Cys173Arg) (Glu186Lys) (Glu208Lys) (Glu254fs)
	Mutations

Title	Axon damage in CMT due to mutation in myelin protein P0
Authors	Hanemann CO, Gabreels-Festen AA, De Jonghe P
Reference	Neuromuscul Disord 11: 753-756, 2001 (PubMed ID: 11595518 )
	MPZ (P0): (Thr124Met)
	Mutations

Title	Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
Authors	Hanemann CO, Bergmann C, Senderek J, Zerres K, Sperfeld AD
Reference	Arch Neurol. 60: 605-609, 2003 (PubMed ID: 12707076 )
	GJB1 (Cx32): (Glu102del)
	Mutations

Title
Authors	Harvey JF
Reference	personal data : , 1998
	GJB1 (Cx32): (Arg15Trp) (Glu186Lys)
	Mutations

Title	Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Authors	Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G; Study Group for Hereditary Neuropathy in Japan
Reference	Brain 126: 134-151, 2003 (PubMed ID: 12477701 )
	MPZ (P0): (Asp35Tyr) GJB1 (Cx32): (Thr55Ala) (Arg142Trp) (Cys201Tyr) (Ala282fs)
	Mutations

Title	De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Authors	Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N
Reference	Nat Genet 5: 266-268, 1993 (PubMed ID: 7506095 )
	MPZ (P0): (Ser63Cys) (Gly167Arg)
	Mutations

Title	Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.
Authors	Hayasaka K, Takada G, Ionasescu VV
Reference	Hum Mol Genet 2: 1369-1372, 1993 (PubMed ID: 7694726 )
	MPZ (P0): (Ile30Met)
	Mutations

Title	Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1.
Authors	Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai Y
Reference	Biochem Biophys Res Commun 194: 1317-1322, 1993 (PubMed ID: 7688964 )
	MPZ (P0): (Arg98His)
	Mutations

Title	Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene.
Authors	Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF
Reference	Nat Genet 5: 31-34, 1993 (PubMed ID: 7693129 )
	MPZ (P0): (Asp90Glu) (Lys96Glu)
	Mutations

Title	New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
Authors	Himoro M, Yoshikawa H, Matsui T, Mitsui Y, Takahashi M, Kaido M, Nishimura T, Sawaishi Y, Takada G, Hayasaka K
Reference	Biochem Mol Biol Int 31: 169-173, 1993 (PubMed ID: 7505151 )
	MPZ (P0): (Tyr82Cys)
	Mutations

Title	SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
Authors	Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K
Reference	Neurology 63: 577-580, 2004 (PubMed ID: 15304601 )
	SBF2 (MTMR13): ([Arg487X]+[Arg487X])
	Mutations

Title	Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.
Authors	Hisama FM
Reference	Arch Neurol. 62: 135-138, 2005 (PubMed ID: 15642860 )
	MPZ (P0): (Arg67Pro)
	Mutations

Title	Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes.
Authors	Hodapp JA, Carter GT, Lipe HP, Michelson SJ, Kraft GH, Bird TD.
Reference	Arch Neurol 63: 112-117, 2006 (PubMed ID: 16401743 )
	GJB1 (Cx32): (Arg220Gly + CMT1A duplication)
	Mutations

Title	Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
Authors	Houlden H, King RH, Wood NW, Thomas PK, Reilly MM
Reference	Brain 124: 907-915, 2001 (PubMed ID: 11335693 )
	MTMR2: (Thr3Lys) ([Gly103Glu]+[Gly103Glu]) ([Thr108fs]+[Thr108fs]) (Thr377Thr) (Thr411Thr)
	Mutations

Title	A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.
Authors	Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK
Reference	Ann Neurol 49: 521-525, 2001 (PubMed ID: 11310631 )
	NTRK1 (TRKA): ([Tyr359Cys]+[Tyr359Cys])
	Mutations

Title	A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
Authors	Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L
Reference	Ann Neurol 56: 586-590, 2004 (PubMed ID: 15455439 )
	RAB7: (Asn161Thr)
	Mutations

Title	Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.
Authors	Houlden H, Girard M, Cockerell C, Ingram D, Wood NW, Goossens M, Walker RW, Reilly MM
Reference	Ann Neurol 56: 730-734, 2004 (PubMed ID: 15470753 )
	GJB1 (Cx32): (-)
	Mutations

Title	Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
Authors	Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM
Reference	Brain 129: 411-425, 2006 (PubMed ID: 16364956 )
	SPTLC1: (Cys133Trp)
	Mutations

Title	New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.
Authors	Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM.
Reference	J Neurol Neurosurg Psychiatry 78: 1267-1270, 2007 (PubMed ID: 17578852 )
	GAN: ([Ala51Pro]+[Ala51Pro]) ([Tyr71X]+[Tyr71X]) ([Pro315Leu]+[Phe518fs]) ([Trp502X]+[Trp502X])
	Mutations

Title	The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Authors	Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA
Reference	Nat Genet 32: 384-392, 2002 (PubMed ID: 12368912 )
	SLC12A6 (KCC3): ([Arg675X]+[Arg675X]) ([Thr813fs]+[Thr813fs]) ([Thr813fs]+[Phe529fs]) ([Arg1011X]+[Arg1011X])
	Mutations

Title	Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Authors	Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW
Reference	Hum Mutat 21: 100, 2003 (PubMed ID: 12497641 )
	PMP22: (Val65Phe) MPZ (P0): (Ser78Leu) (Gly110Asp) GJB1 (Cx32): (Tyr7_Thr8delinsSer) (Ser138Asn) (Arg164Gln) (Pro172Ala) (Asn205Ser)
	Mutations

Title	Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis
Authors	Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, Rautenstrauss B
Reference	Neuromuscular Disorders 18: 159-166, 2008 (PubMed ID: 18077166 )
	NTRK1 (TRKA): ([Ser241fs]+[Ser241fs]) ([Gln558X]+[Leu717Arg]) ([Ile572Ser]+[Ile572Ser]) (-)
	Mutations

Title	Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Authors	Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmuller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L
Reference	Hum Mutat 22: 129-135, 2003 (PubMed ID: 12872253 )
	NDRG1: ([Arg148X]+[Arg148X]) ([3'-splice site]+[3'-splice site])
	Mutations

Title	Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.
Authors	Ikegami T, Ikeda H, Aoyama M, Matsuki T, Imota T, Fukuuchi Y, Amano T, Toyoshima I, Ishihara Y, Endoh H, Hayasaka K
Reference	Hum Genet 102: 294-298, 1998 (PubMed ID: 9544841 )
	PMP22: (Leu80fs) (Gly150Cys)
	Mutations

Title	A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Authors	Ikegami T, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K
Reference	Biochem Biophys Res Commun 222: 107-110, 1998 (PubMed ID: 8630052 )
	MPZ (P0): (Phe64del)
	Mutations

Title	Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B.
Authors	Ikegami T, Ikeda H, Mitsui T, Hayasaka K, Ishii S
Reference	Am J Med Genet 71: 246-248, 1998 (PubMed ID: 9217235 )
	MPZ (P0): (Gly93Glu)
	Mutations

Title	De novo mutation of the myelin Po gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp118.
Authors	Ikegami T, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K
Reference	Hum Mutat Suppl1: S103-105, 1997 (PubMed ID: 9452055 )
	MPZ (P0): (Asp118_Tyr119insPheTyr)
	Mutations

Title	Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
Authors	Ikegami T, Lin C, Kato M, Itoh A, Nonaka I, Kurimura M, Hirayabashi H, Shinohara Y, Mochizuki A, Hayasaka K
Reference	Am J Med Genet 80: 352-355, 1998 (PubMed ID: 9856562 )
	GJB1 (Cx32): (Val37Met) (Gln57His) (Arg142Gln) (Pro172Leu) (Val177Ala)
	Mutations

Title	Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
Authors	Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I
Reference	Nat Genet 13: 485-488, 1996 (PubMed ID: 8696348 )
	NTRK1 (TRKA): ([Arg554fs]+[Arg554fs]) ([Gly577Arg]+[Gly577Arg]) ([5'-splice site]+[5'-splice site])
	Mutations

Title	Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
Authors	Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I
Reference	Hum Mutat 18: 308-318, 2001 (PubMed ID: 11668614 )
	NTRK1 (TRKA): ([Ser131fs]+[Ser131fs]) ([Gln176X]+[Gln176X]) ([5'-splice site]+[Val715Ala]) ([3'-splice site]+[3'-splice site]) ([Arg508fs]+[Arg508fs]) ([Val511fs]+[Val511fs]) ([Tyr757X]+[Arg761Trp]) ([Arg761Trp]+[Arg761Trp])
	Mutations

Title	Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation.
Authors	Inoue K, Tanabe Y, Lupski JR
Reference	Ann Neurol 46: 313-318, 1999 (PubMed ID: 10482261 )
	SOX10: (X467del)
	Mutations

Title	Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
Authors	Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP
Reference	Ann Neurol 52: 836-842, 2002 (PubMed ID: 12447940 )
	SOX10: (Gln250X)
	Mutations

Title	Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.
Authors	Ionasescu VV, Ionasescu R, Searby C, Neahring R
Reference	Neurology 45: 1766-1767, 1997 (PubMed ID: 7675244 )
	PMP22: (Ser72Leu)
	Mutations

Title	Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene.
Authors	Ionasescu VV, Searby CC, Ionasescu R, Reisin R, Ruggieri V, Arberas C
Reference	Muscle Nerve 20: 1308-1310, 1995 (PubMed ID: 9324088 )
	PMP22: (Gly94fs)
	Mutations

Title	Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
Authors	Ionasescu VV, Searby CC, Ionasescu R, Chatkupt S, Patel N, Koenigsberger R
Reference	Muscle Nerve 20: 97-99, 1997 (PubMed ID: 8995589 )
	PMP22: (Gly150Asp)
	Mutations

Title	Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene.
Authors	Ionasescu VV, Searby C, Greenberg SA
Reference	J Med Genet 33: 1048-1049, 1996 (PubMed ID: 9004143 )
	PMP22: (Ser72Leu)
	Mutations

Title	Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
Authors	Ionasescu VV, Searby C, Ionasescu R, Neuhaus IM, Werner R
Reference	Neurology 47: 541-544, 1996 (PubMed ID: 8757034 )
	GJB1 (Cx32): (-) (-)
	Mutations

Title	Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.
Authors	Ionasescu V, Ionasescu R, Searby C
Reference	Am J Med Genet 63: 486-491, 1996 (PubMed ID: 8737658 )
	GJB1 (Cx32): (Trp3Arg) (Trp3Ser) (Arg22X) (Arg22Gln) (Trp77Ser) (Gln80Arg) (Glu102Gly) (His111_His116del) (Arg142Trp) (Arg164Trp) (Glu186X) (Glu186fs) (Cys217X) (Arg220X) (Arg265fs)
	Mutations

Title	X-linked Charcot-Marie-Tooth disease and connexin32.
Authors	Ionasescu VV
Reference	Cell Biol Int 22: 807-813, 1998 (PubMed ID: 10873293 )
	GJB1 (Cx32): (Pro70Ala) (Val95Met) (Phe180Ser)
	Mutations

Title	Central nervous system involvement in X-linked dominant Charcot-Marie-Tooth disease.
Authors	Ionasescu VV
Reference	J Peripher Nerv Syst 4: 291, 1999
	GJB1 (Cx32): (Arg142Trp)
	Mutations

Title	Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Authors	Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Van Den Bosch L, Robberecht W, Vandekerckhove J et al.
Reference	Nat Genet : online pub, 2004 (PubMed ID: 15122253 )
	HSPB8: (Lys141Glu) (Lys141Asn)
	Mutations

Title	Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
Authors	James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K
Reference	Neurology. 2006 Nov 14;67(9):1710-2 67: 1710-1712, 2006 (PubMed ID: 17101916 )
	GARS: (Ile280Phe) (Ser581Leu) (Gly598Ala)
	Mutations

Title	Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
Authors	Janssen EA, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA
Reference	Hum Genet 99: 501-505, 1997 (PubMed ID: 9099841 )
	GJB1 (Cx32): (Arg15Trp) (Arg22X) (Val63Ile) (Ser85Cys) (Pro87Ser) (Leu89Pro) (Val139Met) (Gly199Arg)
	Mutations

Title	Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.
Authors	Jen J, Baloh RH, Ishiyama A, Baloh RW
Reference	J Neurol Sci 237: 21-24, 2005 (PubMed ID: 15992829 )
	PMP22: (Leu71Pro)
	Mutations

Title	Point mutations of Cx32, MPZ and PMP22 genes in Chinese Charcot-Marie-Tooth disease.
Authors	Jianfeng X, Beisha T, Jiahui X, Boyong Z, Shen L, Guangjie X
Reference	personal data : , 1999
	GJB1 (Cx32): (Arg15Gln) (Arg164Gln) (Arg183His) (Thr188Ala)
	Mutations

Title	A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
Authors	Joo IS, Ki CS, Joo SY, Huh K, Kim JW
Reference	Neuromuscul Disord 14: 325-328, 2004 (PubMed ID: 15099592 )
	PMP22: (Thr23Arg)
	Mutations

Title	Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Authors	Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SC, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman
Reference	Brain 126: 590-597, 2003 (PubMed ID: 12566280 )
	NEFL: ([Glu7Lys]+[Pro8Arg]) (Pro8Gln) (Pro8Arg) (Pro8Leu) (Ser40Ser) (Leu64Leu) (Glu90Lys) (Asn97Ser) (Gln141Gln) (Leu223Leu) (Tyr240Tyr) (Ser404Ser) (Asp468Asn) (Ala486Ala) (Glu527del)
	Mutations

Title	Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Authors	Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V,Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, et al.
Reference	Nature Genet 38: 197-202, 2006 (PubMed ID: 16429158 )
	YARS: (Gly41Arg) (Val153_Val156del) (Glu196Lys)
	Mutations

Title	Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3'-Splice Site and Ser130Cys Mutation in the GDAP1 Gene.
Authors	Kabzinska D, Kochanski A, Drac H, Ryniewicz B, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I
Reference	Neuropediatrics 36: 206-209, 2005 (PubMed ID: 15944907 )
	GDAP1: ([3'-splice site mutation]+[Ser130Cys])
	Mutations

Title	Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.
Authors	Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I
Reference	Neurology. 2006 Mar 14;66(5):745-7. 66: 745-747, 2006 (PubMed ID: 16534116 )
	PRX: (Ser399fs)
	Mutations

Title	A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
Authors	Kabzinska D, Kochanski A, Drac H, Rowinska-Marcinska K, Ryniewicz B, Pedrola L, Palau F, Hausmanowa-Petrusewicz I
Reference	J Neurol Sci 241: 7-11, 2006 (PubMed ID: 16343542 )
	GDAP1: ([Met116Thr]+[Met116Thr])
	Mutations

Title	Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.
Authors	Kabzinska D, Drac H, Rowinska-Marcinska K, Fidzianska A, Kochanskii A, Hausmanowa-Petrusewicz I
Reference	Acta Myol 25: 34-37, 2006 (PubMed ID: 17039978 )
	GDAP1: ([Leu239Phe]+[Leu239Phe])
	Mutations

Title	Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.
Authors	Kabzinska D, Perez-Olle R, Goryunov D, Drac H, Ryniewicz B, Hausmanowa-Petrusewicz I, Kochanski A, Liem RK
Reference	J Peripher Nerv Syst 11: 225-231, 2006 (PubMed ID: 16930284 )
	NEFL: (Ile213Met)
	Mutations

Title	Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
Authors	Kabzinska D, Saifi GM, Drac H, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I, Kochanski A, Lupski JR
Reference	Acta Myologica 16: 108-111, 2007
	GDAP1: ([Pro153Leu]+[Pro153Leu])
	Mutations

Title	Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene.
Authors	Kabzinska D, Korwin-Piotrowska T, Drechsler H, Drac H, Hausmanowa-Petrusewicz I, Kochanski A.
Reference	Am J Med Genet A 143: 2196-2199, 2007 (PubMed ID: 17663472 )
	MPZ (P0): (Pro105Thr)
	Mutations

Title	Clinical and genetic analysis of CMT1B in a Nigerian family.
Authors	Kakar R, Ma W, Dutra A, Seltzer WK, Grewal RP
Reference	Muscle Nerve 27: 628-630, 2003 (PubMed ID: 12707985 )
	MPZ (P0): (Ser78Trp)
	Mutations

Title	N-myc Downstream-Regulated Gene 1 Is mutated in hereditary motor and sensory neuropathy-Lom
Authors	Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RHM, Thomas PK
Reference	Am J Hum Genet 67: 47-58, 2000 (PubMed ID: 10831399 )
	NDRG1: ([Arg148X]+[Arg148X])
	Mutations

Title	A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features.
Authors	Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D
Reference	J Neurol 251: 222-223, 2004 (PubMed ID: 14991359 )
	GJB1 (Cx32): (Val38Ala)
	Mutations

Title	Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment.
Authors	Kawakami H, Inoue K, Sakakihara I, Nakamura S
Reference	Neurology 59: 923-926, 2002 (PubMed ID: 12297581 )
	GJB1 (Cx32): (Asn61_Ser62insTyrLeuGlnProGlyCysAsn)
	Mutations

Title
Authors
Reference	personal data : , 2007
	GJB1 (Cx32): (Val189_Phe190insLeuThrVal)
	Mutations

Title	Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.
Authors	Kijima K, Numakura C, Shirahata E, Sawaishi Y, Shimohata M, Igarashi S, Tanaka T, Hayasaka K
Reference	J Hum Genet 49: 376-379, 2004 (PubMed ID: 15197604 )
	PRX: ([Arg1070X]+[Arg1070X])
	Mutations

Title	Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
Authors	Kijima K, Numakura C, Izumino H, Umetsu K, Nezu A, Shiiki T, Ogawa M, Ishizaki Y, Kitamura T, Shozawa Y, Hayasaka K
Reference	Hum Genet 116: 23-27, 2005 (PubMed ID: 15549395 )
	MFN2: (Arg94Gln) (Phe223Leu) (Thr236Met) (Val244Met) (Phe284Tyr) (Lys357Asn) (Glu424Gly)
	Mutations

Title	Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy.
Authors	Kijima K, Numakura C, Goto T, Takahashi T, Otagiri T, Umetsu K, Hayasaka K
Reference	J Hum Genet 50: 473-476, 2005 (PubMed ID: 16155736 )
	HSPB1: (Pro182Ser)
	Mutations

Title	Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.
Authors	Kilfoyle DH, Dyck PJ, Wu Y, Litchy WJ, Klein DM, Dyck PJ, Kumar N, Cunningham JM, Klein CJ
Reference	J Neurol Neurosurg Psychiatry 77: 963-966, 2006 (PubMed ID: 16844954 )
	MPZ (P0): (His39Pro)
	Mutations

Title	Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis
Authors	Kilic SS, Ozturk R, Sarisozen B, Rotthier A, Baets J, Timmerman V
Reference	Neurogenetics 10: 161-165, 2009 (PubMed ID: 19089473 )
	NTRK1 (TRKA): (-)
	Mutations

Title	Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
Authors	Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW
Reference	Am J Hum Genet 81: 552-558, 2007 (PubMed ID: 17701900 )
	PRPS1: (Glu43Asp) (Met115Thr)
	Mutations

Title	SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathies.
Authors	Klein CJ, Wu Y, Kruckeberg KE, Hebbring SJ, Anderson SA, Cunningham JM, Dyck PJ, Klein DM, Thibodeau SN, Dyck PJ
Reference	J Neurol Neurosurg Psychiatry 76: 1022-1024, 2005 (PubMed ID: 15965219 )
	SPTLC1: (Cys133Trp)
	Mutations

Title	A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
Authors	Kleopa KA, Georgiou DM, Nicolaou P, Koutsou P, Papathanasiou E, Kyriakides T, Christodoulou K
Reference	Neurogenetics 5: 171-175, 2004 (PubMed ID: 15205993 )
	PMP22: (Ser22Phe)
	Mutations

Title	Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
Authors	Kleopa KA, Zamba-Papanicolaou E, Alevra X, Nicolaou P, Georgiou DM, Hadjisavvas A, Kyriakides T, Christodoulou K
Reference	Neurology 66: 396-402, 2006 (PubMed ID: 16476939 )
	GJB1 (Cx32): (Val 140Glu) (Leu143Pro)
	Mutations

Title	X-linked Charcot-Marie-Tooth disease with a new mutation (Thr191Ala) in the connexin32.
Authors	Kobari M, Irie J, Takizawa K, Yoshihara T, Sobue G
Reference	Rinsho Shinkeigaku 40: 896-899, 2000 (PubMed ID: 11257785 )
	GJB1 (Cx32): (Thr191Ala)
	Mutations

Title	Molecular genetic analysis of the GJB1 gene: a study of six mutations.
Authors	Kochanski A, Kabzinska D
Reference	J Appl Genet 45: 95-100, 2004 (PubMed ID: 14960772 )
	GJB1 (Cx32): (Gly110Asp) (Val152Asp) (Lys167Glu) (Arg183His) (Glu208Lys)
	Mutations

Title	A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
Authors	Kochanski A, Lofgren A, Jedrzejowska H, Ryniewicz B, Czarny-Ratajczak M, Barciszewska A, Samocko J, Hausmanowa-Petrusewicz I, De Jonghe P, Timmerman V, Latos-Bielenska A
Reference	Hum Mutat 17: 157, 2001 (PubMed ID: 11180613 )
	GJB1 (Cx32): (Glu208Gly)
	Mutations

Title	Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.
Authors	Kochanski A, Drac H, Jedrzejowska H, Hausmanowa-Petrusewicz I
Reference	Eur J Neurol 10: 547-549, 2003 (PubMed ID: 12940837 )
	MPZ (P0): (Asn131Lys)
	Mutations

Title	A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
Authors	Kochanski A, Drac H, Kabzinska D, Hausmanowa-Petrusewicz I
Reference	Neuromuscul Disord 14: 229-232, 2004 (PubMed ID: 15036333 )
	MPZ (P0): (Thr65Ala)
	Mutations

Title	An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene.
Authors	Kochanski A, Kabzinska D, Nowakowski A, Drac H, Hausmanowa-Petrusewicz I
Reference	J Peripher Nerv Syst 9: 1-2, 2004 (PubMed ID: 14871447 )
	MPZ (P0): (Glu56Lys)
	Mutations

Title	A novel MPZ gene mutation in congenital neuropathy with hypomyelination.
Authors	Kochanski A, Drac H, Kabzinska D, Ryniewicz B, Rowinska-Marcinska K, Nowakowski A, Hausmanowa-Petrusewicz I
Reference	Neurology 62: 2122-2123, 2004 (PubMed ID: 15184631 )
	MPZ (P0): (Thr124Lys)
	Mutations

Title	Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
Authors	Kochanski A, Kabzinska D, Drac H, Ryniewicz B, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I
Reference	Eur J Paediatr Neurol 8: 221-224, 2004 (PubMed ID: 15261887 )
	MPZ (P0): (Leu190fs)
	Mutations

Title	De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.
Authors	Kochanski A, Kabzinska D
Reference	Acta Biochim Pol 51: 1047-1050, 2004 (PubMed ID: 15625576 )
	PMP22: (Ser72Leu)
	Mutations

Title	De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
Authors	Komiyama A, Ohnishi A, Izawa K, Yamamori S, Ohashi H, Hasegawa O
Reference	J Neurol Sci 149: 103-109, 1997 (PubMed ID: 9168174 )
	MPZ (P0): (Arg98Cys)
	Mutations

Title	Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Authors	Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G.
Reference	Neuromuscul Disord 17: 624-630, 2007 (PubMed ID: 17587580 )
	GAN: (promotor mutation) ([Arg56fs]+[Arg56fs]) ([Tyr89Cys]+[Gly368Arg]) ([Val195Phe]+[5'-splice site mutation]) ([Gly474Arg]+[Arg477X]) ([Arg545His]+[Arg545His])
	Mutations

Title	A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
Authors	Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B , Wang Jabs E, Gelber D, Kimonis VE
Reference	Am J Hum Genet 64: 1580-1593, 1999 (PubMed ID: 10330345 )
	PMP22: (Ala67Pro)
	Mutations

Title	Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene
Authors	Kuhlenbäumer G, Young P, Oberwittler C, Hünermund G, Schirmacher A, Domschke K, Ringelstein B, Stögbauer F
Reference	Neurology 58: 1273-1276, 2002 (PubMed ID: 11971098 )
	GAN: ([Arg201X]+[Ile423Thr])
	Mutations

Title	Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Authors	Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, Vriendt ED, Young P, Stogbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, et al.
Reference	Nat Genet 37: 1044-1046, 2005 (PubMed ID: 16186812 )
	SEPT9: (-) (Arg88Trp) (Ser93Phe)
	Mutations

Title	Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.
Authors	Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE, Baas F
Reference	Nat Genet 5: 35-39, 1993 (PubMed ID: 7693130 )
	MPZ (P0): (Ser63del)
	Mutations

Title	Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy.
Authors	Kuntzer T, Dunand M, Schorderet DF, Vallat JM, Hahn AF, Bogousslavsky J
Reference	J Neurol Sci 207: 77-86, 2003 (PubMed ID: 12614935 )
	GJB1 (Cx32): (Pro87Leu)
	Mutations

Title	An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan.
Authors	Kurihara S, Adachi Y, Wada K, Awaki E, Harada H, Nakashima K
Reference	Neuroepidemiology 21: 246-250, 2002 (PubMed ID: 12207153 )
	MPZ (P0): (Thr124Met)
	Mutations

Title	Axonal and demyelinating forms of the MPZ Thr124Met mutation.
Authors	Kurihara S, Adachi Y, Wada K, Adachi A, Ohama E, Nakashima K
Reference	Acta Neurol Scand 108: 157-160, 2003 (PubMed ID: 12911457 )
	MPZ (P0): (Thr124Met)
	Mutations

Title	Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.
Authors	Kurihara S, Adachi Y, Imai C, Araki H, Hattori N, Numakura C, Lin Y, Hayasaka K, Sobue G, Nakashima K
Reference	J Neurol Neurosurg Psychiatry 75: 1492-1494, 2004 (PubMed ID: 15377707 )
	MPZ (P0): (Thr124Met)
	Mutations

Title	Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
Authors	Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, Baets J, Senderek J, Topaloglu H, Farrell SA, Nürnberg G, Nürnberg P, De Jonghe P, Gal A, Kaether C, Timmerman V, Hübner CA
Reference	Nature Genetics 41: 1179-81, 2009 (PubMed ID: 19838196 )
	FAM134B: ([Pro7fs]+[Pro7fs]) ([Gln145X]+[Gln145X]) ([5'-splice site]+[5'-splice site]) ([Ser309X]+[Ser309X])
	Mutations

Title	Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates.
Authors	Lafrenière RG, MacDonald ML, Dubé MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W et al.
Reference	Am J Hum Genet 74: 1064-1073, 2004 (PubMed ID: 15060842 )
	WNK1/HSN2: ([Glu198fs]+[Glu198fs]) ([Ser307fs]+[Ser307fs]) ([Ser307fs]+[Gln315X]) ([Gln315X]+[Gln315X])
	Mutations

Title	Peripheral myelin modification in CMT1B correlates with MPZ gene mutations.
Authors	Lagueny A, Latour P, Vital A, Rajabally Y, Le Masson G, Ferrer X, Bernard I, Julien J, Vital C, Vandenberghe A
Reference	Neuromuscul Disord 9: 361-367, 1999 (PubMed ID: 10545037 )
	MPZ (P0): (Arg98His) (Asp109Asn)
	Mutations

Title	Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene.
Authors	Lagueny A, Latour P, Vital A, Le Masson G, Rouanet M, Ferrer X, Vital C, Vandenberghe A
Reference	J Neurol Neurosurg Psychiatry 70: 232-235, 2001 (PubMed ID: 11160475 )
	MPZ (P0): (Glu71X)
	Mutations

Title	Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
Authors	Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G, Boucherat M, Van Broeckhoven C, Vandenberghe A
Reference	Hum Mutat 6: 50-54, 1995 (PubMed ID: 7550231 )
	MPZ (P0): (Ser78Leu) (Trp101Cys)
	Mutations

Title	New mutations in the X-linked form of Charcot-Marie-Tooth disease.
Authors	Latour P, Fabreguette A, Ressot C, Blanquet-Grossard F, Antoine JC, Calvas P, Chapon F, Corbillon E, Ollagnon E, Sturtz F, Boucherat M, ChazotG, Dautigny A, Pham-Dinh D, Vandenberghe A
Reference	Eur Neurol 37: 38-42, 1997 (PubMed ID: 9018031 )
	GJB1 (Cx32): (Met34Val) (Leu90His) (Arg107Trp) (Arg142Trp) (Leu156Phe) (Glu186Lys)
	Mutations

Title	Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
Authors	Latour P, Lévy N, Paret M, Chapon F, Chazot G, Clavelou P, Couratier P, Dumas R, Ollagnon E, Pouget J, Setiey A, Vallat JM, Boucherat M, Fontes M, Vandenberghe A
Reference	Neurogenetics 1: 117-123, 1997 (PubMed ID: 10732813 )
	GJB1 (Cx32): (Ser50Pro) (Leu56Phe) (Arg75Trp) (Glu102X) (Trp133Arg) (Gly159Ser) (Pro184Arg) (Ser281fs)
	Mutations

Title	SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
Authors	Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I
Reference	J Peripher Nerv Syst 11: 148-155, 2006 (PubMed ID: 16787513 )
	LITAF: (Ala111Gly) (Gly112Ser) (Pro135Thr) (Pro135Ser)
	Mutations

Title	Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.
Authors	Laurà M, Milani M, Morbin M, Moggio M, Ripolone M, Jann S, Scaioli V, Taroni F, Pareyson D.
Reference	J Neurol Neurosurg Psychiatry 78: 1263-1266, 2007 (PubMed ID: 17940173 )
	MPZ (P0): (Pro70Ser)
	Mutations

Title	Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
Authors	Lawson VH, Graham BV, Flanigan KM
Reference	Neurology 65: 197-204, 2005 (PubMed ID: 16043786 )
	MFN2: (Thr105Met) (Ile213Thr) (Val273Gly) (Gly298Arg) (Gly319Gly)
	Mutations

Title	Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
Authors	Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernandez E, Barrantes R, Schlotzer-Schrehardt U, Neundorfer B, Reis A, Rautenstrauss B, Heuss D
Reference	Neurogenetics 4: 191-197, 2003 (PubMed ID: 12845552 )
	MPZ (P0): (Tyr145Ser)
	Mutations

Title
Authors	Lee, YC
Reference	personal data : , 2005
	MPZ (P0): (Gly123Ser)
	Mutations

Title	Fequency of P0 gene mutations in HMSN type II families and identification of a British family with a novel mutation.
Authors	Lee MJ, Houlden H, Sweeney M, Thomas PK, Manji H, Wood N, Reilly M
Reference	J Peripher Nerv Syst 4: 295, 1999
	MPZ (P0): (Ala76Val)
	Mutations

Title	Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
Authors	Lee MJ, Nelson I, Houlden H, Sweeney MG, Hilton-Jones D, Blake J, Wood NW, Reilly MM
Reference	J Neurol Neurosurg Psychiatry 73: 304-306, 2002 (PubMed ID: 12185164 )
	GJB1 (Cx32): (Trp24Cys) (Thr55Arg) (Glu109X) (Val125Asp) (Phe153Ser) (Thr191fs) (Thr191fs)
	Mutations

Title	Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
Authors	Lee YC, Soong BW, Lin KP, Lee HY, Wu ZA, Kao KP
Reference	J Neurol Sci 219: 95-100, 2004 (PubMed ID: 15050444 )
	MPZ (P0): (Val58Asp) (Ser63Phe) (Thr65Ile) (Arg98Cys) (Ser233fs)
	Mutations

Title	Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.
Authors	Lee YC, Soong BW, Liu YT, Lin KP, Kao KP, Wu ZA
Reference	J Neurol 252: 151-155, 2005 (PubMed ID: 15729519 )
	MPZ (P0): (Arg98His)
	Mutations

Title	Clinical and genetic analysis of Korean patients with congenital insensitivity to pain with anhidrosis
Authors	Lee ST, Lee J, Lee M, Kim JW, Ki CS
Reference	Muscle Nerve 40: 855-859, 2009 (PubMed ID: 19618435 )
	NTRK1 (TRKA): ([5'-splice site]+[Glu719Lys]) (-) (-)
	Mutations

Title	Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.
Authors	Lenssen PP, Gabreëls-Festen AA, Valentijn LJ, Jongen PJ, van Beersum SE, van Engelen BG, van Wensen PJ, Bolhuis PA, Gabreëls FJ, Mariman EC
Reference	Brain 121: 1451-1458, 1998 (PubMed ID: 9712007 )
	PMP22: (Gly94fs)
	Mutations

Title	A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
Authors	Leung CL, Nagan N, Graham TH, Liem RK
Reference	Am J Med Genet part A 140A: 1021-1025, 2006 (PubMed ID: 16619203 )
	NEFL: (Thr21fs)
	Mutations

Title	Identification of the first non-Jewish mutation in familial dysautonomia.
Authors	Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA
Reference	Am J Med Genet 118A: 305-308, 2003 (PubMed ID: 12687659 )
	IKBKAP: ([5'-splice-site]+[Pro914Leu])
	Mutations

Title	Severe neuropathy with leaky connexin32 hemichannels.
Authors	Liang GS, de Miguel M, Gomez-Hernandez JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH
Reference	Ann Neurol 57: 749-754, 2005 (PubMed ID: 15852376 )
	GJB1 (Cx32): (Phe235Cys)
	Mutations

Title	Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease.
Authors	Lin C, Numakura C, Ikegami T, Shizuka M, Shoji M, Nicholson G, Hayasaka K
Reference	Tohoku J Exp Med 188: 239-244, 1999 (PubMed ID: 10587015 )
	GJB1 (Cx32): (Trp132X) (Deletion of complete coding region)
	Mutations

Title	[A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing].
Authors	Luo W, Tang B, Zhao G, Xia K, Yang Y, Xiao J, Yan X, Xia J
Reference	Zhonghua Yi Xue Yi Chuan Xue Za Zhi 19: 367-369, 2002 (PubMed ID: 12362307 )
	GJB1 (Cx32): (Leu131Pro)
	Mutations

Title	DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Authors	Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI
Reference	Cell 66: 219-232, 1991 (PubMed ID: 1677316 )
	PMP22: (CMT1A duplication)
	Mutations

Title	X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.
Authors	Ma W, Farrukh Nizam M, Grewal RP
Reference	Neurol Sci 23: 195-197, 2002 (PubMed ID: 12536289 )
	GJB1 (Cx32): (Ala40Thr)
	Mutations

Title	Congenital hypomyelination due to myelin protein zero Q215X mutation.
Authors	Mandich P, Mancardi GL, Varese A, Soriani S, Di Maria E, Bellone E, Bado M, Gross L, Windebank AJ, Ajmar F, Schenone A
Reference	Ann Neurol 45: 676-678, 1999 (PubMed ID: 10319895 )
	MPZ (P0): (Gln215X)
	Mutations

Title	Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
Authors	Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y
Reference	Am J Hum Genet 64: 1570-1579, 1999 (PubMed ID: 10330344 )
	NTRK1 (TRKA): ([Gln9X;His604Tyr.Gly613Val]+[Gln9X;His604Tyr.Gly613Val]) ([Asn67fs]+[Asn67fs]) ([Arg85Ser; 3'-splice site]+[Arg85Ser; 3'-splice site]) ([Leu213Pro]+[Gln308fs]) ([5'-splice site]+[5'-splice site]) ([Arg649Trp]+[Arg649Trp]) ([Gly714Ser]+[Gly714Ser])
	Mutations

Title	Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
Authors	Mardy S, Miura Y, Endo F, Matsuda I, Indo Y
Reference	Hum Mol Genet 10: 179-188, 2001 (PubMed ID: 11159935 )
	NTRK1 (TRKA): ([Gln9X;His604Tyr.Gly613Val]+[Gln9X;His604Tyr.Gly613Val]) ([Arg85Ser; 3'-splice site]+[Arg85Ser; 3'-splice site]) ([5'-splice site]+[His604Tyr;Gly613Val;Glu615X;Val617Leu])
	Mutations

Title	Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
Authors	Marques W Jr, Thomas PK, Sweeney MG, Carr L, Wood NW
Reference	Ann Neurol 43: 680-683, 1998 (PubMed ID: 9585367 )
	PMP22: (Ser72Leu) (Gly100Glu)
	Mutations

Title	Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication.
Authors	Marques W Jr, Sweeney MG, Wood NW
Reference	Braz J Med Biol Res 36: 1403-1407, 2003 (PubMed ID: 14502374 )
	PMP22: (Thr118Met)
	Mutations

Title	Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.
Authors	Marques W Jr, Neto JM, Barreira AA
Reference	Acta Neurol Scand 110: 196-199, 2004 (PubMed ID: 15285778 )
	PMP22: (Ser72Leu)
	Mutations

Title	Phenotypic variation of a new P0 mutation in genetically identical twins
Authors	Marques W Jr, Hanna MG, Marques SR, Sweeney MG, Thomas PK, Wood NW
Reference	J Neurol 246: 596-599, 1999 (PubMed ID: 10463363 )
	MPZ (P0): (Asp128Asn)
	Mutations

Title	Central Nervous system involvement in a new Connexin 32 mutation affecting identical twins.
Authors	Marques Jr W, Sweeney MG, Wroe SJ, Wood NW
Reference	Abstractbook Third International Symposium on Charcot-Marie-Tooth Disorders : P21, 1998
	GJB1 (Cx32): (Ala39Val)
	Mutations

Title	A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.
Authors	Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F
Reference	Neurology 48: 489-493, 1998 (PubMed ID: 9040744 )
	PMP22: (Gly107Val)
	Mutations

Title	Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
Authors	Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F
Reference	Neurology 50: 1397-1401, 1997 (PubMed ID: 9595994 )
	MPZ (P0): (Ser44Phe)
	Mutations

Title	Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
Authors	Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG
Reference	J Neurol Neurosurg Psychiatry 67: 174-179, 1999 (PubMed ID: 10406984 )
	MPZ (P0): (Asp35Tyr)
	Mutations

Title	Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).
Authors	Matsuyama W, Nakagawa M, Moritoyo T, Takashima H, Umehara F, Hirata K, Suehara M, Osame M
Reference	J Hum Genet 46: 307-313, 2001 (PubMed ID: 11393532 )
	GJB1 (Cx32): (Arg22Gln) (Val63Ile) (Glu186Lys)
	Mutations

Title	Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Authors	Maystadt I, Zarhrate M, Landrieu P, Boespflug-Tanguy O, Sukno S, Collignon P, Melki J, Verellen-Dumoulin C, Munnich A, Viollet L.
Reference	Hum Mutat 23: 525-526, 2004 (PubMed ID: 15108294 )
	IGHMBP2: (Gln196Arg + Arg603Cys) (Pro216Leu + Arg603Cys) (Leu251Pro + Leu577Pro) ([Cys496X]+[?]) (Asp565Asn + Arg790X)
	Mutations

Title	The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Authors	Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C
Reference	Am J Hum Genet 81: 67-76, 2007 (PubMed ID: 17564964 )
	PLEKHG5: ([Phe647Ser]+[Phe647Ser])
	Mutations

Title	The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
Authors	Meggouh F, Benomar A, Rouger H, Tardieu S, Birouk N, Tassin J, Barhoumi C, Yahyaoui M, Chkili T, Brice A, LeGuern E
Reference	J Med Genet 34: 251-252, 1998 (PubMed ID: 9541114 )
	GJB1 (Cx32): (Ala147fs)
	Mutations

Title	Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
Authors	Meggouh F, de Visser M, Arts WF, De Coo RI, van Schaik IN, Baas F
Reference	Ann Neurol 57: 589-591, 2005 (PubMed ID: 15786462 )
	LITAF: (Gly112Ser + CMT1A duplication)
	Mutations

Title	Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
Authors	Meggouh F, Bienfait HM, Weterman MA, de Visser M, Baas F
Reference	Neurology 67: 1476-1478, 2006 (PubMed ID: 17060578 )
	RAB7: (Lys157Asn)
	Mutations

Title	Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 in Russian Charcot-Marie-Tooth neuropathy patients.
Authors	Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, Van Broeckhoven C, Evgrafov OV
Reference	Hum Mutat 15: 340-347, 2000 (PubMed ID: 10737979 )
	PMP22: (Val25_Ser26del) (Thr118Met) (Leu147Arg) MPZ (P0): (Arg98His) (Asp134Gly) (Asp134Glu) (Ile135Thr) (Lys138Asn) (Thr139Asn) (Ser228Ser) GJB1 (Cx32): ([Ile20Asn;Gly21Ser]) (Met34Lys) (Leu79Leu) (Gln80Arg) (Leu90Val) (Met93Val) (Arg107Trp) (Arg142Trp) (Arg164Gln) (Arg183His) (Glu186Lys) (Phe193Leu) (Glu208Lys)
	Mutations

Title	A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
Authors	Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV
Reference	Am J Hum Genet 67: 37-46, 2000 (PubMed ID: 10841809 )
	NEFL: (Gln332Pro)
	Mutations

Title	A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.
Authors	Meuleman J, Pou-Serradell A, Lofgren A, Ceuterick C, Martin JJ, Timmerman V, Van Broeckhoven C, De Jonghe P
Reference	Neuromuscul Disord 11: 400-403, 2001 (PubMed ID: 11369192 )
	PMP22: (3'-splice site)
	Mutations

Title	Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
Authors	Mikesova E, Huhne K, Rautenstrauss B, Mazanec R, Barankova L, Vyhnalek M, Horacek O, Seeman P
Reference	Neuromuscul Disord 15: 764-767, 2005 (PubMed ID: 16198564 )
	EGR2: (Arg359Gln)
	Mutations

Title	Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Authors	Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN
Reference	Arch Neurol 64: 966-970, 2007 (PubMed ID: 17620486 )
	NEFL: (Pro8Arg) (Leu94Pro)
	Mutations

Title	Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropathy and the Thr124Met mutation in the peripheral myelin protein zero gene.
Authors	Misu K, Yoshihara T, Yamamoto M, Hattori N, Nagamatu M, Mukai E, Takegami T, Sobue G
Reference	Rinsho Shinkeigaku 40: 149-154, 2000 (PubMed ID: 10835936 )
	MPZ (P0): (Thr124Met)
	Mutations

Title	An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene ('Thr124Met or Asp75Val).
Authors	Misu K, Yoshihara T, Shikama Y, Awaki E, Yamamoto M, Hattori N, Hirayama M, Takegami T, Nakashima K, Sobue Gen
Reference	J Neurol Neurosurg Psychiatry 69: 806-811, 2000 (PubMed ID: 11080237 )
	MPZ (P0): (Asp75Val)
	Mutations

Title	A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene;
Authors	Mitsui Y, Matsui T, Nakamura Y, Takahashi M, Yoshikawa H, Hayasaka K
Reference	Rinsho Shinkeigaku 34: 1162-1167, 1994 (PubMed ID: 7537189 )
	MPZ (P0): (Tyr82Cys)
	Mutations

Title	Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
Authors	Miura Y, Mardy S, Awaya Y, Nihei K, Endo F, Matsuda I, Indo Y
Reference	Hum Genet 106: 116-124, 2000 (PubMed ID: 10982191 )
	NTRK1 (TRKA): (Leu93Pro) ([Ser131fs]+[Ser131fs]) (Glu164X) (-) (Tyr359X) (Gly522Arg) ([Arg554fs]+[Arg554fs]) ([Gly577Arg]+[Gly577Arg]) (Leu585fs) (Arg602X) (Arg654Cys) (Asp674Tyr) (Asp776fs)
	Mutations

Title	Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.
Authors	Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S, Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y
Reference	Hum Genet 107: 205-209, 2000 (PubMed ID: 11071380 )
	NTRK1 (TRKA): ([Arg554fs]+[Arg554fs])
	Mutations

Title	Description of mutations in Cx32 in Italian families with diagnosois of CMT1 and CMT2.
Authors	Mostacciuolo ML, Fabrizi GM, Bosello V, Cavallaro T, Schiavon F, Pinaroli C, Rizzuto N
Reference	J Peripher Nerv Syst 4: 296-297, 1999
	GJB1 (Cx32): (Val23Glu) (Arg75Gln) (His94Gln) (Tyr151Ser) (Arg164Trp) (Arg183His) (Pro184Leu)
	Mutations

Title	Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Authors	Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F
Reference	Hum Mutat 18: 32-41, 2001 (PubMed ID: 11438991 )
	PMP22: (Ser72Leu) MPZ (P0): (Ser63Phe) GJB1 (Cx32): (Leu25Pro) (Ser128X)
	Mutations

Title	Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene.
Authors	Muglia M, Toscana A, Gabriele AL, Magariello A, Patitucci A, Conforti FL, Mazzei R, Rodolico C, Gambardella A, Quattrone A
Reference	Hum Mutat (Online) 15: 299, 2000 (PubMed ID: 10679959 )
	MPZ (P0): (Arg45Gln)
	Mutations

Title	A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies.
Authors	Muglia M, Patitucci A, Rizzi R, Ungaro C, Conforti FL, Gabriele AL, Magariello A, Mazzei R, Motti L, Sabadini R, Sprovieri T, Marcello N, Quattrone A
Reference	J Neurol Sci 263: 194-197, 2007 (PubMed ID: 17707409 )
	PMP22: (Leu4fs)
	Mutations

Title	A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
Authors	Muglia M, Vazza G, Patitucci A, Milani M, Pareyson D, Taroni F, Quattrone A, Mostacciuolo ML.
Reference	J Neurol Neurosurg Psychiatry 78: 1286-1287, 2007 (PubMed ID: 17940179 )
	MFN2: (Ala383Val)
	Mutations

Title	A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities.
Authors	Murru MR, Vannelli A, Marrosu G, Cocco E, Corongiu D, Tranquilli S, Cherchi MV, Mura M, Barberini L, Mallarini G, Marrosu MG
Reference	Neurol Sci 27: 18-23, 2006 (PubMed ID: 16688595 )
	GJB1 (Cx32): (Glu41Asp)
	Mutations

Title	Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene.
Authors	Nadal M, Valiente A, Domenech A, Pritchard M, Estivill X, Ramos-Arroyo MA
Reference	J Med Genet 37: 396-398, 2000 (PubMed ID: 10905899 )
	PMP22: (reciprocal transclocation t(16;17)(q12;p11.2))
	Mutations

Title	A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths.
Authors	Nakagawa M, Suehara M, Saito A, Takashima H, Umehara F, Saito M, Kanzato N, Matsuzaki T, Takenaga S, Sakoda S, Izumo S, Osame M
Reference	Neurology 52: 1271-1275, 1999 (PubMed ID: 10214757 )
	MPZ (P0): (Ile62Phe)
	Mutations

Title	A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe de novo Charcot-Marie-Tooth disease.
Authors	Navon R, Seifried B, Gal-On NS, Sadeh M
Reference	Hum Genet 97: 685-687, 1996 (PubMed ID: 8655153 )
	PMP22: (Leu147Arg)
	Mutations

Title
Authors	Nelis E
Reference	personal data : , 1998
	PMP22: (Ile29Ile) GJB1 (Cx32): (Leu79Leu)
	Mutations

Title
Authors	Nelis
Reference	personal data : , 2006
	MFN2: (Arg468His) (Val705Ile)
	Mutations

Title	Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
Authors	Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, Martin JJ, Van Broeckhoven C
Reference	Hum Genet 94: 653-657, 1994 (PubMed ID: 7527371 )
	MPZ (P0): (Ser78Leu) (Val92Val) (Asp134Asn) (Tyr154X) (Tyr181X) (Ser228Ser)
	Mutations

Title	Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.
Authors	Nelis E, Simokovic S, Timmerman V, Löfgren A, Backhovens H, De Jonghe P, Martin JJ, Van Broeckhoven C
Reference	Hum Mutat 9: 47-52, 1997 (PubMed ID: 8990008 )
	GJB1 (Cx32): (Leu25Phe) (Ser26Leu) (Pro87Ala) (Arg238His) (Ser281X)
	Mutations

Title	Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
Authors	Nelis E, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C
Reference	J Med Genet 31: 811-815, 1994 (PubMed ID: 7530774 )
	MPZ (P0): (Asp134Glu)
	Mutations

Title	Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
Authors	Nelis E, Van Broeckhoven C, coauthors
Reference	Eur J Hum Genet 4: 25-33, 1996 (PubMed ID: 8800924 )
	PMP22: (CMT1A duplication) (HNPP deletion) MPZ (P0): (Gly163Arg) (Gly167Arg) GJB1 (Cx32): (Arg15Trp) (Arg22Gln) (Ala40Val) (Leu56Phe) (His73fs) (Met93Val) (Thr130fs) (Val139Met) (Arg142Trp)
	Mutations

Title	Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.
Authors	Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C
Reference	Hum Mol Genet 3: 515-516, 1994 (PubMed ID: 8012365 )
	PMP22: (5'-splice site)
	Mutations

Title	PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
Authors	Nelis E, Holmberg B, Adolfsson R, Holmgren G, van Broeckhoven C
Reference	Nat Genet 15: 13-14, 1994 (PubMed ID: 8988161 )
	PMP22: (Thr118Met)
	Mutations

Title	Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Authors	Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreels-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V
Reference	Neurology 59: 1865-1872, 2002 (PubMed ID: 12499475 )
	GDAP1: ([Ser194X]+[Ser194X]) ([Gly262fs]+[Gly262fs]) ([Arg282Cys]+[Arg282Cys])
	Mutations

Title	Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.
Authors	Nelis E, De Jonghe P, De Vriendt E, Patel PI, Martin JJ, Van Broeckhoven C
Reference	J Med Genet 35: 590-593, 1998 (PubMed ID: 9678704 )
	PMP22: (-)
	Mutations

Title	A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Authors	Nelis E, Erdem S, Tan E, Lofgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H
Reference	Neuromuscul Disord 12: 869-873, 2002 (PubMed ID: 12398840 )
	MTMR2: ([Arg283Trp]+[Arg283Trp]) (Thr377Thr)
	Mutations

Title	Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A).
Authors	Neusch C, Senderek J, Eggermann T, Elolff E, Bahr M, Schneider-Gold C
Reference	Eur J Neurol 14: 575-577, 2007 (PubMed ID: 17437620 )
	MFN2: (Arg94Gln)
	Mutations

Title	A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
Authors	Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, Baas F
Reference	Nat Genet 6: 263-266, 1994 (PubMed ID: 8012388 )
	PMP22: (Leu7fs)
	Mutations

Title	Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
Authors	Nicholson GA, Yeung L, Corbett A
Reference	Neurology 51: 1412-1416, 1998 (PubMed ID: 9818870 )
	GJB1 (Cx32): (Leu9Trp) (Ile28Thr) (Ile30Thr) (Met34Thr) (Ile127Met) (Leu131Pro) (Pro158fs) (Val192Phe) (Leu239Ile)
	Mutations

Title
Authors	Nicholson and Kennerson
Reference	personal data : , 2006
	SPTLC1: (Arg151Leu)
	Mutations

Title	X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability.
Authors	Niewiadomski LA, Kelly TE
Reference	Am J Med Genet 66: 175-178, 1996 (PubMed ID: 8958325 )
	GJB1 (Cx32): (Arg220X)
	Mutations

Title	HNPP due to a novel missense mutation of the PMP22 gene.
Authors	Nodera H, Nishimura M, Logigian EL, Herrmann DN, Kaji R.
Reference	Neurology 60: 1863-1864, 2003 (PubMed ID: 12796555 )
	PMP22: (Ala67Thr)
	Mutations

Title	Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1.
Authors	Numakura c, Lin C, Oka N, Akiguchi I, Hayasaka K
Reference	Ann Neurol 47: 11-103, 2000 (PubMed ID: 10632107 )
	PMP22: ([Arg157Gly]+[HNPP deletion])
	Mutations

Title	Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations
Authors	Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K
Reference	Hum Mutat 20: 392-398, 2002 (PubMed ID: 12402337 )
	PMP22: (-) (-) (Ser72Leu) (Gln86X) (Ile104fs) (5'-splice site) (Leu156Leu) (-) MPZ (P0): (Ser63del) (Thr65Ile) (Tyr68Cys) (Asp75Val) (Tyr82Cys) (Val113Ile) (Thr124Met) (Gly163Arg) GJB1 (Cx32): (Leu10Leu) (Arg75Trp) (Arg75Gln) (Trp77X) (Val120del) (Val139Met) (Glu146Lys) (Ala147Asp) (Val210del) (Arg264Cys)
	Mutations

Title	Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.
Authors	Numakura C, Shirahata E, Yamashita S, Kanai M, Kijima K, Matsuki T, Hayasaka K
Reference	J Neurol Sci 210: 61-64, 2003 (PubMed ID: 12736090 )
	EGR2: (Asp383Tyr)
	Mutations

Title	Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease.
Authors	Oh S, Ri Y, Bennett MV, Trexler EB, Verselis VK, Bargiello TA
Reference	Neuron 19: 927-938, 1997 (PubMed ID: 9354338 )
	GJB1 (Cx32): (Ser26Leu)
	Mutations

Title	A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation.
Authors	Ohnishi A, Yoshimura T, Kanehisa Y, Fukushima Y
Reference	Rinsho Shinkeigaku 35: 788-792, 1995 (PubMed ID: 8777804 )
	PMP22: (Gly93Arg)
	Mutations

Title	A family of X-linked motor and sensory neuropathy with a new type of connexin32 mutation.
Authors	Ohnishi A, Yoshimura T, Takazawa A, Hashimoto T, Yamamoto T, Fukushima Y
Reference	Rinsho Shinkeigaku 35: 843-849, 1995 (PubMed ID: 8665724 )
	GJB1 (Cx32): (Ser26Leu)
	Mutations

Title	Dejerine-Sottas disease with a novel de novo dominant mutation, Ser49Arg, of the peripheral myelin protein 22.
Authors	Ohnishi A, Yamamoto T, Izawa K, Yamamori S, Takahashi, Mega H, Jinnai K
Reference	Acta Neuropathol 99: 327-330, 2000 (PubMed ID: 10663978 )
	PMP22: (Ser149Arg)
	Mutations

Title	A case of Charcot-Marie-Tooth disease 1B with Val146Phe mutation of myelin protein zero showing a severe clinical phenotype.
Authors	Ohnishi A, Aoki A, Yamamoto T, Tsuji S
Reference	Rinsho Shinkeigaku 40: 268-270, 2000 (PubMed ID: 10885340 )
	MPZ (P0): (Val146Phe)
	Mutations

Title	The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene.
Authors	Ohto T, Iwasaki N, Fujiwara J, Ohkoshi N, Kimura S, Kawade K, Tanaka R, Matsui A
Reference	Neuropediatrics 35: 274-278, 2005 (PubMed ID: 15534759 )
	NTRK1 (TRKA): ([Gly519Arg]+[Pro768Leu])
	Mutations

Title	X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.
Authors	Orth U, Fairweather N, Exler MC, Schwinger E, Gal A
Reference	Hum Mol Genet 3: 1699-1700, 1994 (PubMed ID: 7833935 )
	GJB1 (Cx32): (Val38Met)
	Mutations

Title	Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.
Authors	Otagiri T, Sugai K, Kijima K, Arai H, Sawaishi Y, Shimohata M, Hayasaka K
Reference	J Hum Genet. 2006;51(7):625-8. 51: 625-628, 2006 (PubMed ID: 16770524 )
	PRX: ([Leu132fs]+[Arg1070X])
	Mutations

Title	Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
Authors	Oterino A, Monton FI, Cabrera VM, Pinto F, Gonzalez A, Lavilla NR
Reference	J Med Genet 33: 413-415, 1996 (PubMed ID: 8733054 )
	GJB1 (Cx32): (Arg164Trp)
	Mutations

Title	Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations.
Authors	Panas M, Karadimas C, Avramopoulos D, Vassilopoulos D
Reference	J Neurol Neurosurg Psychiatry 65: 947-948, 1998 (PubMed ID: 9854984 )
	GJB1 (Cx32): (Arg15Trp) (Thr55Ile) (Val120Glu) (Arg164Gln)
	Mutations

Title	Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.
Authors	Pareyson D, Taroni F
Reference	Curr Opin Neurology 9: 348-354, 1996 (PubMed ID: 8894410 )
	PMP22: (Trp124X)
	Mutations

Title	Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
Authors	Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, Ciano C, Sghirlanzoni A
Reference	Neurology 54: 1696-1698, 2000 (PubMed ID: 10762521 )
	EGR2: (Arg381His)
	Mutations

Title	Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.
Authors	Park HK, Kim BJ, Sung DH, Ki CS, Kim JW.
Reference	Clin Genet 70: 253-256, 2006 (PubMed ID: 16922730 )
	PMP22: (3'-splice site) GJB1 (Cx32): (Asp46Gly) (Val95Met) (Tyr151His) (Phe180Leu)
	Mutations

Title	Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
Authors	Parman Y, Planté-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said,G
Reference	Ann Neurol 45: 518-522, 1999 (PubMed ID: 10211478 )
	PMP22: ([Arg157Trp]+[Arg157Trp])
	Mutations

Title	Clinicopathological and genetic study of early-onset demyelinating neuropathy.
Authors	Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Necefov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G
Reference	Brain 127: 2540-2550, 2004 (PubMed ID: 15469949 )
	MTMR2: (Thr228fs) ([Ile281fs]+[?]) NDRG1: ([Arg148X]+[Arg148X]) PRX: ([Arg1070X]+[Arg1070X]) GDAP1: ([Asp149Tyr]+[Asp149Tyr])
	Mutations

Title	Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.
Authors	Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH, Grossman RI, Lenkinski R, Kamholz JA, Shy ME
Reference	Ann Neurol 52: 429-434, 2002 (PubMed ID: 12325071 )
	GJB1 (Cx32): (Arg142Trp) (Cys168Tyr)
	Mutations

Title	Co-segregation of LMNA and PMP22 gene mutations in the same family.
Authors	Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R, Mostacciuolo ML, Ferrari M, Angelini C.
Reference	Neuromuscul Disord 15: 858-862, 2005 (PubMed ID: 16288874 )
	PMP22: ([PMP22:Trp124X]+[LMNA:Leu512Pro])
	Mutations

Title	Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation.
Authors	Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P
Reference	Ann Neurol 48: 671-676, 2000 (PubMed ID: 11026454 )
	SOX10: (Glu265fs)
	Mutations

Title	Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.
Authors	Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R
Reference	Brain 126: 2682-2692, 2003 (PubMed ID: 14506069 )
	IGHMBP2: ([Arg43X]+[Cys496X]) ([Thr221fs] + [?]) ([Arg320X]+[Cys496X]) ([Arg320X]+[Leu361Pro]) (Lys328fs) ([Leu361Pro]+[Cys496X]) ([Leu488fs]+[Leu488fs])
	Mutations

Title	The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.
Authors	Planté-Bordeneuve V, Parman Y, Guiochon-Mantel A, Alj Y, Deymeer F, Serdaroglu P, Eraksoy M, Said G
Reference	J Neurol 248: 795-803, 2001 (PubMed ID: 11596785 )
	PMP22: (Ser72Leu) MPZ (P0): ([Val42del]+[Ala221Thr])
	Mutations

Title	The Roussy-Levy family: from the original description to the gene
Authors	Planté-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G
Reference	Ann Neurol 46: 770-773, 1999 (PubMed ID: 10553995 )
	MPZ (P0): (Asn131Lys)
	Mutations

Title	Mutant dynactin in motor neuron disease.
Authors	Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH, Ludlow CL, Fischbeck KH
Reference	Nat Genet 33: 455-456, 2003 (PubMed ID: 12627231 )
	DCTN1: (Gly59Ser)
	Mutations

Title	Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a).
Authors	Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C, the HMSN Collaborative Research Group
Reference	Neuromuscul Disord 1: 93-97, 1991 (PubMed ID: 1822787 )
	PMP22: (CMT1A duplication)
	Mutations

Title	Identification of a de novo insertional mutation in P0 in a patient with a Dejerine-Sottas syndrome (DSS) phenotype.
Authors	Rautenstrauss B, Nelis E, Grehl H, Pfeiffer RA, Van Broeckhoven C
Reference	Hum Mol Genet 3: 1701-1702, 1994 (PubMed ID: 7530550 )
	MPZ (P0): (Ala221fs)
	Mutations

Title	LATE ONSET HEREDITARY SENSORY NEUROPATHY TYPE 1 (HSN1) CAUSED BY A NOVEL P.C133R MISSENSE MUTATION IN SPTLC1
Authors	Rautenstrauss B, Neitzel B, Muench C, Haas J, Holinski-Feder E, Abicht A.
Reference	Journal of Peripheral Nervous System 14: 124-125, 2009
	SPTLC1: (Cys133Arg)
	Mutations

Title	Preimplantation genetic diagnosis for familial dysautonomia.
Authors	Rechitsky S, Verlinsky O, Kuliev A, Ozen RS, Masciangelo C, Lifchez A, Verlinsky Y
Reference	Reprod Biomed Online 6: 488-493, 2003 (PubMed ID: 12831599 )
	IKBKAP: ([5'-splice site]+[5'-splice site])
	Mutations

Title	X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.
Authors	Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D
Reference	Hum Genet 98: 172-175, 1996 (PubMed ID: 8698335 )
	GJB1 (Cx32): (Arg22Gly) (Arg22X) (Arg22Pro) (Trp133X) (Arg215Trp)
	Mutations

Title	A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family.
Authors	Riviere JB, Verlaan DJ, Shekarabi M, Lafreniere RG, Benard M, Der Kaloustian VM, Shbaklo Z, Rouleau GA
Reference	Ann Neurol 56: 572-575, 2004 (PubMed ID: 15455397 )
	WNK1/HSN2: ([Pro316fs]+[Pro316fs])
	Mutations

Title	Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
Authors	Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR
Reference	Nat Genet 5: 269-273, 1993 (PubMed ID: 8275092 )
	PMP22: (Met69Lys) (Ser72Leu)
	Mutations

Title	Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A.
Authors	Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR
Reference	Nat Genet 5: 189-194, 1993 (PubMed ID: 8252046 )
	PMP22: (Thr118Met)
	Mutations

Title	Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Authors	Roa BB, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR
Reference	Hum Mutat 7: 36-45, 1996 (PubMed ID: 8664899 )
	MPZ (P0): (Ile135Thr) (Gly137Ser) (Gly200Gly) (Ser228Ser)
	Mutations

Title	Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
Authors	Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR
Reference	N Engl J Med 329: 96-101, 1993 (PubMed ID: 8510709 )
	PMP22: (Ser79Cys)
	Mutations

Title	Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.
Authors	Roddier K, Thomas T, Marleau G, Gagnon AM, Dicaire MJ, St-Denis A, Gosselin I, Sarrazin AM, Larbrisseau A, Lambert M, Vanasse M, Gaudet D, Rouleau GA, Brais B
Reference	Neurology 64: 1762-1767, 2005 (PubMed ID: 15911806 )
	WNK1/HSN2: ([Arg290X]+[Arg290X]) ([Ser307fs]+[Ser307fs]) ([Gln315X]+[Gln315X])
	Mutations

Title	Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Authors	Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L, Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M
Reference	J Neurol Sci 263: 100-106, 2007 (PubMed ID: 17663003 )
	GARS: (Ala57Val) BSCL2: (Asn88Ser) (Ser90Leu)
	Mutations

Title	Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation
Authors	Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V.
Reference	Brain 132: 2699-711, 2009 (PubMed ID: 19651702 )
	NTRK1 (TRKA): (-) ([Arg565Gln]+[Arg565Gln]) SPTLC1: (Ser331Phe) (Ala352Val)
	Mutations

Title	Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I
Authors	Rotthier A, Auer-Grumbach M, Janssens K, Baets J, Penno A, Almeida-Souza L, Van Hoof K, Jacobs A, De Vriendt E, Schlotter-Weigel B, Löscher W, Vondrácek P, Seeman P, De Jonghe P, Van Dijck P, Jordanova A, Hornemann T, Timmerman V
Reference	American Journal of Human Genetics 8: 513-522, 2010 (PubMed ID: 20920666 )
	SPTLC2: (Val352Met) (Gly382Val) (Ile504Phe)
	Mutations

Title	Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
Authors	Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A
Reference	Hum Mutat 10: 443-452, 1997 (PubMed ID: 9401007 )
	GJB1 (Cx32): (Arg22X) (Met34Thr) (Val84Ile) (Val95Met) (Arg107Trp) (Trp133Arg) (Phe141Leu) (Pro158Ala) (Ile203Asn) (Asn205Ser) (Ile213_Ile214delinsLeu) (Arg220X) (Complex rearrangement)
	Mutations

Title	High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.
Authors	Rouger H, LeGuern E, Gouider R, Tardieu S, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A
Reference	Am J Hum Genet 58: 638-641, 1996 (PubMed ID: 8644725 )
	MPZ (P0): (Arg98Cys) (Arg98His) (Arg98Pro)
	Mutations

Title	Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.
Authors	Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F
Reference	Neurology 67: 1141-1146, 2006 (PubMed ID: 17030746 )
	MPZ (P0): (5'-splice site)
	Mutations

Title	Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts.
Authors	Sahenk Z, Chen L
Reference	J Neurosci Res 51: 174-184, 1998 (PubMed ID: 9469571 )
	GJB1 (Cx32): (Glu102Gly)
	Mutations

Title	A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts.
Authors	Sahenk Z, Chen L, Freimer M
Reference	Neurology 5: 702-707, 1998 (PubMed ID: 9748013 )
	PMP22: (Val30Met)
	Mutations

Title	Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.
Authors	Sahin N, Tan M, Kalay E, Calapoglu M, Karaguzel A
Reference	Int J Neurosci 113: 777-785, 2003 (PubMed ID: 12775342 )
	GJB1 (Cx32): (Val91Met)
	Mutations

Title	SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Authors	Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR
Reference	Hum Mutat 25: 372-383, 2005 (PubMed ID: 15776429 )
	LITAF: (Thr49Met) () (Ile92Val) (Asn110Asn) (Gly112Ser) (Leu122Val) () (Lys159Lys) (3'UTR) (3'UTR) (3'UTR) (3'UTR)
	Mutations

Title	Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.
Authors	Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA.
Reference	1: Neurology. 2007 Sep 25;69(13):1350-5. 69: 1350-1355, 2007 (PubMed ID: 17893295 )
	SLC12A6 (KCC3): ([Gln999fs]+[Gln999fs])
	Mutations

Title	Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.
Authors	Sambuughin N, De Bantel A, McWilliams S, Sivakumar K
Reference	Neurology 60: 506-508, 2003 (PubMed ID: 12578939 )
	PMP22: (Ala115_Thr118del)
	Mutations

Title	Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association.
Authors	Sanahuja J, Franco E, Rojas-Garcia R, Gallardo E, Combarros O, Begue R, Granes P, Illa I
Reference	Arch Neurol 62: 1911-1914, 2005 (PubMed ID: 16344349 )
	PMP22: (HNPP deletion)
	Mutations

Title	A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.
Authors	Santoro L, Manganelli F, Di Maria E, Bordo D, Cassandrini D, Ajmar F, Mandich P, Bellone E.
Reference	J Neurol Neurosurg Psychiatry 75: 262-265, 2004 (PubMed ID: 14742601 )
	MPZ (P0): (Asp109Glu)
	Mutations

Title	Transient cerebral white matter lesions in a patient with connexin 32 missense mutation.
Authors	Schelhaas HJ, Van Engelen BG, Gabreels-Festen AA, Hageman G, Vliegen JH, Van Der Knaap MS, Zwarts MJ
Reference	Neurology 59: 2007-2008, 2002 (PubMed ID: 12499506 )
	GJB1 (Cx32): (Arg164Trp)
	Mutations

Title	Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.
Authors	Schiavon F, Fracasso C, Mostacciuolo ML
Reference	Hum Mutat 8: 83-83, 1996 (PubMed ID: 8807343 )
	GJB1 (Cx32): (Tyr7Cys)
	Mutations

Title	Mutations of the same sequence of the myelin P0 gene causing two different phenotypes.
Authors	Schiavon F, Rampazzo A, Merlini L, Angelini C, Mostacciuolo ML
Reference	Hum Mutat Suppl1: S217-219, 1998 (PubMed ID: 9452091 )
	MPZ (P0): (Thr124Met) (Phe125_Thr126del)
	Mutations

Title
Authors	Seeman P
Reference	personal data : , 2004
	MPZ (P0): (Arg98Cys) (Thr124Met) (Gly213Arg) GJB1 (Cx32): (His100Tyr) (Pro158Arg) (Arg164Gln) (Arg183Cys) (Glu186Lys) (Val206fs) (Glu208Lys) (Arg215Trp)
	Mutations

Title	Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing
Authors	Seeman P, Mazanec R, Ctvrteckova M, Smilkova D
Reference	Int J Mol Med 8: 461-468, 2001 (PubMed ID: 11562788 )
	GJB1 (Cx32): (Tyr65His)
	Mutations

Title	Charcot-Marie-Tooth 1A: heterozygous T118M mutation over a CMT1A duplication has no influence on the phenotype
Authors	Seeman P, Mazanec R, Marikova T, Rautenstrauss B
Reference	Ann N Y Acad Sci 883: 485-489, 1999 (PubMed ID: 10586280 )
	PMP22: (Thr118Met)
	Mutations

Title	Novel mutations in the GJB1 - connexin 32 (Cx32) gene in Czech CMTX patients.
Authors	Seeman P, Mazanec R, Vondrácek P, Soukupová M, Kofer J, Milucká J, Seemanva
Reference	Eur J Hum Genet 12 (suppl.1): 248, 2004
	GJB1 (Cx32): (Leu9Phe) (Leu212Phe)
	Mutations

Title	Novel mutations in myelin protein zero gene in Czech Charcot-Marie-Tooth disease patients.
Authors	Seeman P, Sisková D, Benes III V, Svetnicová K, Sixtová K, Jahnová H, Mazanec R
Reference	Eur J Pediatr Neurol 7: 291, 2003
	MPZ (P0): (Thr65Asn) (5'-splice site)
	Mutations

Title	Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation.
Authors	Seeman P, Mazanec R, Huehne K, Suslikova P, Keller O, Rautenstrauss B
Reference	Neurology 63: 733-735, 2004
	MPZ (P0): (Glu97Val)
	Mutations

Title	X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).
Authors	Senderek J, Bergmann C, Quasthoff S, Ramaekers VT, Schroder JM
Reference	Acta Neuropathol (Berl) 95: 443-449, 1998 (PubMed ID: 9600589 )
	GJB1 (Cx32): (Arg15Trp) (Arg22Gln)
	Mutations

Title	X-linked dominant Charcot-Marie-Tooth disease: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations.
Authors	Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schroder JM
Reference	J Neurol Sci 167: 90-101, 1999 (PubMed ID: 10521546 )
	GJB1 (Cx32): (Ala39Val) (Val206fs)
	Mutations

Title	Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible „hotspot“ on Thr124Met.
Authors	Senderek J, Hermanns B, Lehmann U, Bergmann C, Marx G, Kabus C, Timmerman V, Stoltenburg-Didinger G, Schröder JM
Reference	Brain Pathol 10: 235-248, 2000 (PubMed ID: 10764043 )
	MPZ (P0): (Asp61Gly) (Tyr119Cys) (Thr124Met)
	Mutations

Title	Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain
Authors	Senderek J, Ramaekers VT, Zerres K, Rudnik-Schoneborn S, Schroder JM, Bergmann C
Reference	J Neurol Sci 192: 49-51, 2001 (PubMed ID: 11701152 )
	MPZ (P0): (Gly206X)
	Mutations

Title	Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Authors	Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Zuchner S, De Jonghe P, Rudnik-Schoneborn S, Zerres K, Schroder JM
Reference	Brain 126: 642-649, 2003 (PubMed ID: 12566285 )
	GDAP1: ([Tyr117fs]+[Tyr117fs]) (Ser169Ser) ([5'-splice site]+[5'-splice site]) ([Arg282Cys]+[Arg282Cys])
	Mutations

Title	Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
Authors	Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schoneborn S, Buttner R, Buchheim E, Zerres K
Reference	Hum Mol Genet 12: 349-356, 2003 (PubMed ID: 12554688 )
	SBF2 (MTMR13): ([Leu351_Glu432del]+[Leu351_Glu432del])
	Mutations

Title	Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth Type 4C neuropathy.
Authors	Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, et al.
Reference	Am J Hum Genet 73: 1106-1119, 2003 (PubMed ID: 14574644 )
	SH3TC2 (KIAA1985): ([Arg9fs]+[Arg9fs]) ([5'-splice site]+[5'-splice site]) ([Arg529Gln]+[Arg529Gln]) ([Arg583fs]+[Arg583fs]) ([Glu657Lys]+[Glu657Lys]) ([Arg658Cys]+[Arg954X]) ([Ser831fs]+[Ser831fs]) ([Tyr943X]+[Arg954X]) ([Arg954X]+[Gln1201X]) ([Pro1114fs]+[Pro1114fs])
	Mutations

Title	Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity.
Authors	Shabo G, Scheffer H, Cruysberg JR, Lammens M, Pasman JW, Spruit M, Willemsen MA
Reference	Pediatr Neurol 33: 277-279, 2005 (PubMed ID: 16194727 )
	CTDP1: (Leu287fs)
	Mutations

Title	Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
Authors	Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R
Reference	Am J Med Genet 92: 353-360, 2000 (PubMed ID: 10861667 )
	NTRK1 (TRKA): ([Gly613Val]+[Gly613Val]) ([Pro621fs]+[Pro621fs]) ([Pro621fs]+[Pro621fs]) (Ala629Ala) ([Gly684Gly]+[Gly684Gly]) ([Pro695Leu]+[Pro695Leu])
	Mutations

Title	Mutations in the nervous system specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II
Authors	Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA
Reference	Journal of Clinical Investigation 2008: 2496-505, 118 (PubMed ID: 18521183 )
	WNK1/HSN2: ([Arg214fs]+[Asp531fs*])
	Mutations

Title	A novel mutation of the myelin P(o) gene segregating Charcot-Marie-Toothdisease type 1B manifesting as trigeminal nerve thickening.
Authors	Shizuka M, Ikeda Y, Watanabe M, Okamoto K, Shoji M, Ikegami T, Hayasaka K
Reference	J Neurol Neurosurg Psychiatry 67: 250-251, 1999 (PubMed ID: 10475757 )
	MPZ (P0): (His81Arg)
	Mutations

Title
Authors	Shy M
Reference	personal data : , 1998
	GJB1 (Cx32): (Cys168X)
	Mutations

Title	Phenotypic clustering in MPZ mutations.
Authors	Shy ME, Jani A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J
Reference	Brain 127: 371-384, 2004 (PubMed ID: 14711881 )
	MPZ (P0): (His39Pro) (Ser44Phe) (Cys50_Val58del) (Arg98His) (Lys130Arg) (Ser140Thr)
	Mutations

Title	T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
Authors	Shy ME, Scavina MT, Clark A, Krajewski KM, Li J, Kamholz J, Kolodny E, Szigeti K, Fischer RA, Saifi GM, Scherer SS, Lupski JR
Reference	Ann Neurol 59: 358-364, 2006 (PubMed ID: 16437560 )
	PMP22: ([Thr118Met]+[Thr118Met])
	Mutations

Title	Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Authors	Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgard E, Aula P, Savontaus ML
Reference	Hum Mutat 12: 59-69, 1998 (PubMed ID: 9633821 )
	PMP22: (Phe84del) MPZ (P0): (Ser78Leu) (Tyr82Cys) GJB1 (Cx32): ([Arg22Gln;Val63Ile]) (Pro58Arg) (Pro172Leu) (Asn175Asp) (Leu204Phe)
	Mutations

Title	A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Dejerine-Sottas syndrome patients.
Authors	Silander K, Meretoja P, Nelis E, Timmerman V, Van Broeckhoven C, Aula P, Savontaus ML
Reference	Hum Mutat 8: 304-310, 1996 (PubMed ID: 8956034 )
	MPZ (P0): (Gln86_Ile89delinsHisLeuPhe)
	Mutations

Title	Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
Authors	Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen J, Aula P, Savontaus ML
Reference	Hum Genet 100: 391-397, 1997 (PubMed ID: 9272161 )
	GJB1 (Cx32): (Arg22Gln) (Arg75Trp) (Arg75Gln) (Arg107Trp) (Val139Met) (Met194Val)
	Mutations

Title	A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease.
Authors	Sillén A, Anneren G, Dahl N
Reference	Hum Mutat Suppl1: S8-9, 1998 (PubMed ID: 9452025 )
	GJB1 (Cx32): (Cys201Arg)
	Mutations

Title	Rapid mutation analysis of Charcot-Marie-Tooth type 1.
Authors	Sillibourne J, Hackwell SM, Stevens CA, Harvey JF
Reference	J Med Genet Suppl1: S87, 1998
	GJB1 (Cx32): (Ser42fs) (Arg142Gln)
	Mutations

Title	Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22.
Authors	Simonati A, Fabrizi GM, Pasquinelli A, Taioli F, Cavallaro T, Morbin M, Marcon G, Papini M, Rizzuto N
Reference	Neuromuscul Disord 9: 257-261, 1999 (PubMed ID: 10399754 )
	PMP22: (Ser72Leu)
	Mutations

Title	Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0.
Authors	Simonati A, Fabrizi GM, Taioli F, Polo A, Cerini R, Rizzuto N
Reference	J Neurol 249: 1298-1302, 2002 (PubMed ID: 12242557 )
	MPZ (P0): (Gly167Arg)
	Mutations

Title	Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
Authors	Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG
Reference	Brain 128: 2304-2314, 2005 (PubMed ID: 16014653 )
	GARS: (His418Arg)
	Mutations

Title	Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Authors	Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF
Reference	Am J Hum Genet 68: 598-605, 2001 (PubMed ID: 11179008 )
	IKBKAP: ([Arg696Pro]+[5'-splice site (skipping ex20)]) ([5'-splice site]+[5'-splice site])
	Mutations

Title	Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family.
Authors	Smit LS, Roofthooft D, van Ruissen F, Baas F, van Doorn PA.
Reference	Neuromuscul Disord : Epub ahead of print, 2007 (PubMed ID: 17825553 )
	MPZ (P0): (Leu184fs)
	Mutations

Title	Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
Authors	Song S, Zhang Y, Chen B, Zhang Y, Wang M, Wang Y, Yan M, Zou J, Huang Y, Zhong N
Reference	Genet Med 8: 532-535, 2006 (PubMed ID: 16912585 )
	MPZ (P0): (3' splice site) GJB1 (Cx32): (Glu208Lys) (Arg215Trp)
	Mutations

Title	Novel mutation of the myelin P0 gene in a CMT1B family.
Authors	Sorour E, MacMillan J, Upadhyaya M
Reference	Hum Mutat 9: 74-77, 1997 (PubMed ID: 8990016 )
	MPZ (P0): (His81Arg)
	Mutations

Title	Mutation analysis in Charcot-Marie-Tooth disease type 1.
Authors	Sorour E, Upadhyaya M
Reference	Hum Mutat Suppl1: S22-247, 1998 (PubMed ID: 9452099 )
	MPZ (P0): (Val58Phe) (Tyr68Cys) (Ile112Thr) (Pro132Leu) (Gly167Arg) GJB1 (Cx32): (Arg15Trp) (Cys60Phe) (Thr86Ala) (Val91fs) (Ala92fs) (His100Tyr) (Trp133Cys) (Asn205Ser)
	Mutations

Title	Rare myelin protein zero sequence variant in late onset CMT1B.
Authors	Souayah N, Seltzer WK, Brannagan TH, Chin RL, Sander HW
Reference	J Neurol Sci 263: 177-179, 2007 (PubMed ID: 17602703 )
	MPZ (P0): (His39Pro)
	Mutations

Title	Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation.
Authors	Sowden JE, Logigian EL, Malik K, Herrmann DN
Reference	J Neurol Neurosurg Psychiatry 76: 442-444, 2005 (PubMed ID: 15716547 )
	MPZ (P0): (Lys236del)
	Mutations

Title	Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser).
Authors	Starr A, Michalewski HJ, Zeng FG, Fujikawa-Brooks S, Linthicum F, Kim CS, Winnier D, Keats B
Reference	Brain 126: 1604-1619, 2003 (PubMed ID: 12805115 )
	MPZ (P0): (Tyr145Ser)
	Mutations

Title	Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
Authors	Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U et al.
Reference	Am J Hum Genet 81: 158-164, 2007 (PubMed ID: 17564972 )
	FGD4: ([Arg224X]+[Arg224X]) ([Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs]) ([Glu543fs]+[Glu543fs]) ([Gly586X]+[Gly586X])
	Mutations

Title	Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q).
Authors	Stojkovic T, Latour P, Vandenberghe A, Hurtevent JF, Vermersch P
Reference	Neurology 52: 1010-1014, 1999 (PubMed ID: 10102421 )
	GJB1 (Cx32): (Arg142Gln)
	Mutations

Title	Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
Authors	Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, Vermersch P.
Reference	Neuromuscul Disord 14: 261-264, 2004 (PubMed ID: 15019704 )
	GDAP1: ([Ile186fs]+[Ile186fs])
	Mutations

Title	Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
Authors	Street VA, Meekins G, Lipe HP, Seltzer WK, Carter GT, Kraft GH, Bird TD
Reference	Neuromuscul Disord 12: 643-650, 2002 (PubMed ID: 12207932 )
	MPZ (P0): (Ser140Thr) (Gly163Arg) (Lys236del) GJB1 (Cx32): (Ser49Pro)
	Mutations

Title	Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
Authors	Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF
Reference	Neurology 60: 22-26, 2003 (PubMed ID: 12525712 )
	LITAF: (Gly112Ser) (Thr115Asn) (Trp116Gly)
	Mutations

Title	Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene
Authors	Suriu C, Khayat M, Weiler M, Kfir N, Cohen C, Zinger A, Aslanidis C, Schmitz G, Falik-Zaccai TC
Reference	Clinical Genetics 75: 230-235, 2009 (PubMed ID: 19250380 )
	NTRK1 (TRKA): ([Thr69fs]+[Thr69fs])
	Mutations

Title	Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies.
Authors	Sutton IJ, Mocroft AP, Lindley VH, Barber RM, Bryon RJ, Winer JB, MacDonald F
Reference	Neuromuscul Disord 14: 804-809, 2004 (PubMed ID: 15564036 )
	PMP22: (partial deletion of coding region)
	Mutations

Title	Marked phenotypic variation in a family with a new myelin protein zero mutation.
Authors	Szabo A, Zuchner S, Siska E, Mechler F, Molnar MJ
Reference	Neuromuscul Disord 15: 760-763, 2005 (PubMed ID: 16198109 )
	MPZ (P0): (Leu48Pro)
	Mutations

Title	Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.
Authors	Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR
Reference	Ann Neurol 54: 398-402, 2003 (PubMed ID: 12953275 )
	MPZ (P0): (Leu184fs)
	Mutations

Title	Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Authors	Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos SCh, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR
Reference	Neurogenetics 8: 257-262, 2007 (PubMed ID: 17717711 )
	EGR2: (Glu412Lys)
	Mutations

Title	Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings.
Authors	Tabaraud F, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM
Reference	Muscle Nerve 22: 1442-1447, 1999 (PubMed ID: 10487913 )
	GJB1 (Cx32): (Glu102X)
	Mutations

Title	A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis.
Authors	Tachi N, Kozuka N, Ohya K, Chiba S, Sasaki K, Uyemura K, Hayasaka K
Reference	Neurosci Lett 204: 173-176, 1996 (PubMed ID: 8938258 )
	MPZ (P0): (Lys130Arg)
	Mutations

Title	A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype
Authors	Tachi N, Kozuka N, Ohya K, Chiba S, Yamashita S
Reference	J Neurol Sci 156: 167-171, 1998 (PubMed ID: 9588852 )
	MPZ (P0): (Ala188fs)
	Mutations

Title	A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.
Authors	Tachi N, Kikuchi S, Kozuka N, Nogami A
Reference	Pediatr Neurol 32: 288-290, 2005 (PubMed ID: 15797190 )
	IGHMBP2: ([Thr879Lys]+[Thr879Lys])
	Mutations

Title	New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.
Authors	Takagi M, Ozawa T, Hara K, Naruse S, Ishihara T, Shimbo J, Igarashi S, Tanaka K, Onodera O, Nishizawa M
Reference	Neurology 66: 1251-1252, 2006 (PubMed ID: 16636245 )
	WNK1/HSN2: ([Asp379fs]+[Asp379fs])
	Mutations

Title	Germline mosaicism of MPZ gene in Dejerine-Sottas syndrome (HMSN III) associated with hereditary stomatocytosis.
Authors	Takashima H, Nakagawa M, Kanzaki A, Yawata Y, Horikiri T, Matsuzaki T, Suehara M, Izumo S, Osame M
Reference	Neuromuscul Disord 9: 232-238, 1999 (PubMed ID: 10399750 )
	MPZ (P0): (Gly167Arg)
	Mutations

Title	Periaxin mutations cause a broad spectrum of demyelinating neuropathies.
Authors	Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schroder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR
Reference	Ann Neurol 51: 709-715, 2002 (PubMed ID: 12112076 )
	PRX: ([Arg82fs]+[Arg82fs]) ([Cys715X]+[Cys715X])
	Mutations

Title	Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.
Authors	Takashima H, Nakagawa M, Umehara F, Hirata K, Suehara M, Mayumi H, Yoshishige K, Matsuyama W, Saito M, Jonosono M, Arimura K, Osame M
Reference	Acta Neurol Scand 107: 31-37, 2003 (PubMed ID: 12542510 )
	GJB1 (Cx32): (Arg22Gln) (Val63Ile) (Glu186Lys) (Deletion of complete coding region)
	Mutations

Title	Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
Authors	Takashima H, Boerkoel CF, Lupski JR
Reference	Genet Med 3: 335-342, 2001 (PubMed ID: 11545686 )
	PMP22: (Trp140Arg) GJB1 (Cx32): (Arg15fs) (Arg238His) EGR2: (Gly451Val)
	Mutations

Title	Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.
Authors	Tan CC, Ainsworth PJ, Hahn AF, MacLeod PM
Reference	Hum Mutat 7: 167-171, 1996 (PubMed ID: 8829637 )
	GJB1 (Cx32): (Met34Thr) (Arg75Gln) (Arg107Trp) (Tyr211X)
	Mutations

Title	Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.
Authors	Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu XM, Chen B, Zhang C, Shen L, Jiang H, Long ZG, Dai HP
Reference	Hum Genet 116: 222-224, 2005 (PubMed ID: 15565283 )
	HSPB8: (Lys141Asn)
	Mutations

Title	Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
Authors	Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H
Reference	Arch Neurol. 2005 Aug;62(8):1201-7 62: 1201-1207, 2005 (PubMed ID: 16087758 )
	HSPB1: (Arg127Trp)
	Mutations

Title	A nonsense mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies (HNPP) not associated with the 17p11.2 deletion.
Authors	Taroni F, Botti S, Sghirlanzoni A, Botteon G, DiDonato S, Pareyson D
Reference	Am J Hum Genet 57: A229, 1995
	PMP22: (Leu145fs)
	Mutations

Title	PMP22 and MPZ mutations in Italian families with hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas disease (DSD)
Authors	Taroni F, Botti S, Sghirlanzoni A, Pareyson D
Reference	Mediz Genetik 9: 171, 1997
	MPZ (P0): (Val169fs)
	Mutations

Title	Mutations in the Schwann cell transcription factor EGR2/Krox20 in patients with severe hereditary demyelinating neuropathies.
Authors	Taroni F, Pareyson D, Botti S, Sghirlanzoni A, Nemni R, Riva D
Reference	Neurology 52 [Suppl 2]: 258-259, 1999
	EGR2: (Arg359Trp)
	Mutations

Title	PMP22 and MPZ mutations in Italian families with hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas diseaqse (DSD)
Authors	Taroni F, Botti S, Sghirlanzoni A, Pareyson, D
Reference	Am J Hum Genet 59: A288, 1996
	MPZ (P0): (Val102fs)
	Mutations

Title	The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.
Authors	Taylor RA, Simon EM, Marks HG, Scherer SS
Reference	Neurology 61: 1475-148, 2003 (PubMed ID: 14663027 )
	GJB1 (Cx32): (Arg75Trp)
	Mutations

Title	Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
Authors	Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D
Reference	Brain 127: 154-163, 2004 (PubMed ID: 14607793 )
	LMNA: ([Arg298Cys]+[Arg298Cys])
	Mutations

Title	Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
Authors	Timmerman V, De Jonghe P, Spoelders P, Simokovic S, Löfgren A, Nelis E, Vance J, Martin JJ, Van Broeckhoven C
Reference	Neurology 46: 1311-1318, 1996 (PubMed ID: 8628473 )
	GJB1 (Cx32): (Ser49Tyr)
	Mutations

Title	A novel dominant mutation in the early growth response 2 (EGR2) gene associated with a Dejerine-Sottas syndrome (DSS) phenotype.
Authors	Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Debrabandere S, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C
Reference	Neurology 52: 1827-1832, 1999 (PubMed ID: 10371530 )
	EGR2: (Arg359Trp) (Arg362Arg)
	Mutations

Title	Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population
Authors	Tüysüz B, Bayrakli F, DiLuna ML, Bilguvar K, Bayri Y, Yalcinkaya C, Bursali A, Ozdamar E, Korkmaz B, Mason CE, Ozturk AK, Lifton RP, State MW, Gunel M
Reference	Neurogenetics 9: 119-125, 2008 (PubMed ID: 18322713 )
	NTRK1 (TRKA): (-) ([Gly166X]+[Gly166X]) ([3'-splice site]+[3'-splice site]) ([Gln770X]+[Gln770X])
	Mutations

Title	Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
Authors	Tyson J, Ellis D, Fairbrother U, King RH, Muntoni F, Jacobs J, Malcolm S, Harding AE, Thomas PK
Reference	Brain 120: 47-63, 1997 (PubMed ID: 9055797 )
	PMP22: (Ser72Trp) (Ser76Ile) (Leu80Pro) MPZ (P0): (Ile135Thr) (Leu166fs)
	Mutations

Title	New mutation of gap junction protein beta1 (GJB1) gene in X-linked hereditary motor and sensory neuropathy.
Authors	Umehara F, Arimura Y, Osame M, Minato S, Nakahara K
Reference	J Peripher Nerv Syst 11: 96-97, 2006 (PubMed ID: 16519791 )
	GJB1 (Cx32): (Leu156fs)
	Mutations

Title	Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation.
Authors	Valentijn LJ, Ouvrier RA, van den Bosch NH, Bolhuis PA, Baas F, Nicholson GA
Reference	Hum Mutat 5: 76-80, 1995 (PubMed ID: 7728152 )
	PMP22: (His12Gln)
	Mutations

Title	Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
Authors	Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreëls-Festen AW, de Visser M, Bolhuis PA
Reference	Nat Genet 2: 288-291, 1992 (PubMed ID: 1303281 )
	PMP22: (Leu16Pro)
	Mutations

Title	BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
Authors	BP, Scheffer H, van Eijk JJ, Versteeg MH, Kremer H, Zwarts MJ, Schelhaas HJ, van Engelen BG
Reference	Neuromusc Disord 16: 122-125, 2006 (PubMed ID: 16427281 )
	BSCL2: (Asn88Ser)
	Mutations

Title	Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.
Authors	van de Wetering RAC, Gabreels-Festen AA, Timmerman V, Padberg GM, Gabreels FJ, Mariman EC
Reference	Neuromuscul Disord 12: 651-655, 2002 (PubMed ID: 12207933 )
	PMP22: (partial deletion of coding region)
	Mutations

Title	Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies.
Authors	Vandenberghe N, Upadhyaya M, Gatignol A, Boutrand L, Boucherat M, Chazot G, Vandenberghe A, Latour P
Reference	J Med Genet 39: e81, 2002 (PubMed ID: 12471219 )
	EGR2: (Arg381His)
	Mutations

Title	Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Authors	Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK et al.
Reference	Nat Genet 35: 185-189, 2003 (PubMed ID: 14517542 )
	CTDP1: (Leu287fs)
	Mutations

Title	A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.
Authors	Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML
Reference	Neuromuscul Disord Epub ahead of print]: , 2006 (PubMed ID: 17052905 )
	GJB1 (Cx32): (Thr191_Phe193dup)
	Mutations

Title	Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy.
Authors	Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V
Reference	Am J Hum Genet 72: 722-727, 2003 (PubMed ID: 12545426 )
	RAB7: (Leu129Phe) (Val162Met)
	Mutations

Title	Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.
Authors	Verhoeven K, De Jonghe P, Van de Putte T, Nelis E, Zwijsen A, Verpoorten N, De Vriendt E, Jacobs A, Van Gerwen V, Francis A, Ceuterick C, Huylebroeck D, Timmerman V
Reference	Am J Hum Genet 73: 926-932, 2003 (PubMed ID: 14508709 )
	ARHGEF10: (Thr332Ile)
	Mutations

Title	SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Authors	Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin JJ, Timmerman V, De Jonghe P
Reference	Neurology 62: 1001-1002, 2004 (PubMed ID: 15037712 )
	SPTLC1: (Gly387Ala)
	Mutations

Title	MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie- Tooth type 2.
Authors	Verhoeven K, Claeys KG, Zuchner S, Schroder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C et al.
Reference	Brain 129: 2093-2102, 2006 (PubMed ID: 16714318 )
	MFN2: (Leu76Pro) (Leu92Pro) (Arg94Trp) (Arg94Gln) (Ala100Gly) (Pro123Leu) (His165Tyr) (His165Arg) (Thr206Ile) (Arg250Trp+Arg400X) (Arg250Gln) (His277Arg) (Arg280His) (Met376Ile) (Leu379_Met381del) (Gln386Pro) (Leu710Pro) (Trp740Ser) (Gln751X)
	Mutations

Title	Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.
Authors	Verny C, Ravise N, Leutenegger AL, Pouplard F, Dubourg O, Tardieu S, Dubas F, Brice A, Genin E, LeGuern E
Reference	Neurology 63: 1527-1529, 2004 (PubMed ID: 15505184 )
	MTMR2: (Trp583X)
	Mutations

Title	Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
Authors	Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E
Reference	Neuromusc Disord 16: 19-25, 2006 (PubMed ID: 16373086 )
	NTRK1 (TRKA): (5'-splice site (skipping exon 3 and skipping exons 2+3)) (Gly181fs) ([Gly613Val]+[Gly613Val]) (Gln626fs) (Ala629Ala) ([Arg761Trp]+[Arg761Trp])
	Mutations

Title	X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
Authors	Vondracek P, Seeman P, Hermanova M, Fajkusova L
Reference	Muscle Nerve 31: 252-255, 2005 (PubMed ID: 15468313 )
	GJB1 (Cx32): (Ile127Ser)
	Mutations

Title	Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promotor activity of human connexin-32 gene.
Authors	Wang H, Wu T, Chang W, Li AH, Chen M, Wu C, Fang W
Reference	Brain Res Mol Brain Res 78: 146-153, 2000 (PubMed ID: 10891594 )
	GJB1 (Cx32): (-)
	Mutations

Title	Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
Authors	Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR
Reference	Neuron 17: 451-460, 1996 (PubMed ID: 8816708 )
	MPZ (P0): (Arg98Ser) (Arg98Cys) (Val102fs) (Leu174fs) (Gln215X)
	Mutations

Title	Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
Authors	Warner LE, Shohat M, Shorer Z, Lupski JR
Reference	Hum Mutat 10: 21-24, 1997 (PubMed ID: 9222756 )
	MPZ (P0): ([Ile114Thr;Asn116His;Asp128Asn])
	Mutations

Title	Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Authors	Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR
Reference	Nat Genet 18: 382-384, 1998 (PubMed ID: 9537424 )
	EGR2: ([Ile268Asn]+[Ile268Asn]) ([Ser382Arg; Asp383Tyr]) (Arg409Trp)
	Mutations

Title	Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation.
Authors	Watanabe M, Yamamoto N, Ohkoshi N, Nagata H, Kohno Y, Hayashi A, Tamaoka A, Shoji S
Reference	Neurology 59: 767-769, 2002 (PubMed ID: 12221176 )
	MPZ (P0): (Arg98His)
	Mutations

Title	Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected.
Authors	Wicklein EM, Orth U, Gal A, Kunze K
Reference	J Neurol Neurosurg Psychiatry 63: 379-381, 1997 (PubMed ID: 9328258 )
	GJB1 (Cx32): (Arg15Trp)
	Mutations

Title
Authors	Williams and Morris
Reference	personal data : , 2000
	GJB1 (Cx32): (Trp3X)
	Mutations

Title
Authors	Williams
Reference	personal data : , 2000
	GJB1 (Cx32): (Leu83Arg) (Cys173Tyr) (Thr176Pro)
	Mutations

Title	Laboratory Service provision in the South West of England - two years' experience.
Authors	Williams MM, Tyfield LA, Jardine P, Lunt PW, Stevens DL, Turnpenny PD
Reference	Ann N Y Acad Sci 883: 500-503, 1999
	GJB1 (Cx32): (Arg22Gln) (Ala39Val) (Val43Met) (Lys104Thr) (Val139Met) (Arg142Trp) (Arg142Gln) (Phe149Val) (Val177Glu) (Arg220X)
	Mutations

Title	Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Authors	Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K
Reference	Nat Genet 36: 271-276, 2004 (PubMed ID: 14981520 )
	BSCL2: (Asn88Ser) (Ser90Leu)
	Mutations

Title	Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
Authors	Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR
Reference	Am J Hum Genet 53: 853-863, 1993 (PubMed ID: 8105684 )
	PMP22: (CMT1A duplication)
	Mutations

Title	Clinical and molecular features of X-linked Charcot-Marie-Tooth disease.
Authors	Wolfe GI, Bryan WW, Barohn RJ
Reference	J Child Neurol 11: A147, 1996
	GJB1 (Cx32): (Arg220X)
	Mutations

Title	Mutation of gene in spinal muscular atrophy respiratory distress type I.
Authors	Wong VC, Chung BH, Li S, Goh W, Lee SL
Reference	Pediatr Neurol 34: 474-477, 2006 (PubMed ID: 16765827 )
	IGHMBP2: ([V580I]+[A786fs])
	Mutations

Title	Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.
Authors	Wu T, Wang HL, Chu CC, Yu JM, Chen JY, Huang CC
Reference	Chang Gung Med J 27: 489-500, 2004 (PubMed ID: 15508871 )
	GJB1 (Cx32): (-)
	Mutations

Title	Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination
Authors	Xu W, Shy M, Kamholz J, Elferink L, Xu G, Lilien J, Balsamo J
Reference	J Cell Biol 155: 439-446, 2001 (PubMed ID: 11673479 )
	MPZ (P0): (Arg227Ser)
	Mutations

Title	Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan.
Authors	Yamamoto M, Yoshihara T, Hattori N, Sobue G
Reference	Neurogenetics 5: 75-77, 2004 (PubMed ID: 14586770 )
	NEFL: (Glu527del)
	Mutations

Title	Phe84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSNIII with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings.
Authors	Yener GG, Guiochon-Mantel A, Obuz F, Baklan B, Öztürk V, Kovanlikaya I, Cakmur R, Genç A
Reference	J Neurol 248: 193-196, 2001 (PubMed ID: 11355152 )
	PMP22: (Phe84del)
	Mutations

Title	Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
Authors	Yoshihara T, Yamamoto M, Doyu M, Misu KI, Hattori N, Hasegawa Y, Mokuno K, Mitsuma T, Sobue G
Reference	Hum Mutat 16: 177-178, 2000 (PubMed ID: 10923043 )
	MPZ (P0): (Val32Phe) (Tyr68Cys) (Lys130Arg) GJB1 (Cx32): (Phe69Leu) (Ser128X) (Arg142Gln) (Arg164Gln)
	Mutations

Title	A novel mutation in the early growth response 2 gene associated with late-onset Charcot-Marie-Tooth disease type 1.
Authors	Yoshihara T, Kanda F, Yamamoto M, Ishihara H, Misu K, Hattori N, Chihara K, Sobue G
Reference	J Neurol Sci 184: 149-153, 2001 (PubMed ID: 11239949 )
	EGR2: (Arg381Cys)
	Mutations

Title	Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
Authors	Yoshihara T, Yamamoto M, Hattori N, Misu K, Mori K, Koike H, Sobue G
Reference	J Peripher Nerv Syst 7: 221-224, 2002 (PubMed ID: 12477167 )
	NEFL: (-) (Pro22Thr) (Val76Ala) (Gln93Gln) (Asn98Ser) (Ala149Val) (Ala498Thr) (Glu527del)
	Mutations

Title	Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth disease type X families.
Authors	Yoshimura T, Ohnishi A, Yamamoto T, Fukushima Y, Kitani M, Kobayashi T
Reference	Hum Mutat 8: 270-272, 1996 (PubMed ID: 8889588 )
	GJB1 (Cx32): (Ser26Leu) (Cys53Ser)
	Mutations

Title	Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.
Authors	Yoshimura T, Satake M, Ohnishi A, Tsutsumi Y, Fujikura Y
Reference	J Neurosci Res 51: 154-161, 1998 (PubMed ID: 9469569 )
	GJB1 (Cx32): (Pro172Arg)
	Mutations

Title	A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.
Authors	Yotsumoto S, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T
Reference	J Invest Dermatol 112: 810-814, 1999 (PubMed ID: 10233776 )
	NTRK1 (TRKA): ([Met587Val]+[(Arg554fs)])
	Mutations

Title	A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.
Authors	Young P, Wiebusch H, Stogbauer F, Ringelstein B, Assmann G, Funke H
Reference	Neurology 48: 450-452, 1997 (PubMed ID: 9040737 )
	PMP22: (Gly94fs)
	Mutations

Title	Mutation analysis in Charcot-Marie-Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity
Authors	Young P, Grote K, Kuhlenbäumer, Debus O, Kurlemann H, Halfter H, Funke H, Ringelstein EB, Stögbauer F
Reference	J Neurol 248: 410-415, 2001 (PubMed ID: 11437164 )
	MPZ (P0): (Ser51Phe) (Ser78Leu) (Arg98His) (Gln141X) GJB1 (Cx32): (Ser26Trp) (Cys64Phe) (Glu102fs) (Arg142Trp) (Arg164Trp) (Pro184Arg) (Arg215Trp)
	Mutations

Title	PMP22 Thr118Met is not a clinically relevant CMT1 marker.
Authors	Young P, Stogbauer F, Eller B, de Jonghe P, Lofgren A, Timmerman V, Rautenstrauss B, Oexle K, Grehl H, Kuhlenbaumer G, Van Broeckhoven C, Ringelstein EB, Funke H.
Reference	J Neurol 247: 696-700, 2000 (PubMed ID: 11081809 )
	PMP22: (Thr118Met)
	Mutations

Title	A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.
Authors	Zéphir H, Stojkovic T, Latour P, Hurtevent JF, Blankaert F, Vermersch P
Reference	Neuromuscul Disord 15: 493-497, 2005 (PubMed ID: 15955700 )
	PMP22: (Leu145fs)
	Mutations

Title	Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.
Authors	Zhu D, Kennerson ML, Walizada G, Zuchner S, Vance JM, Nicholson GA
Reference	Neurology 65: 496-497, 2005 (PubMed ID: 16087932 )
	MFN2: (His165Asp)
	Mutations

Title	Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Authors	Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD,Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battologlu E, Polyakov AV, Timmerman V et al.
Reference	Nat Genet 36: 449-451, 2004 (PubMed ID: 15064763 )
	MFN2: (Val69Phe) (Leu76Pro) (Arg94Trp) (Arg94Gln) (Thr105Met) (Pro251Ala) (Arg274Gln) (Arg280His) (Arg418X) (Trp740Ser)
	Mutations

Title	The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
Authors	Züchner S, Vorgerd M, Sindern E, Schröder JM.
Reference	Neuromuscul Disord 14: 147-157, 2004 (PubMed ID: 14733962 )
	NEFL: (Glu396Lys)
	Mutations

Title	Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Authors	Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM
Reference	Nat Genet 37: 289-294, 2005 (PubMed ID: 15731758 )
	DNM2: (Asp551_Glu553del; Asp551fs) (Lys558del) (Lys558Glu)
	Mutations

Title	Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Authors	Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM.
Reference	Ann Neurol 59: 276-281, 2006 (PubMed ID: 16437557 )
	MFN2: (Arg94Trp) (Thr206Ile) (Gln276Arg) (His361Tyr) (Arg364Trp) (Arg418X)
	Mutations