Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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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 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

Reference

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

Reference

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

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