Inherited Peripheral Neuropathies Mutation Database

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Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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