Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

doi:10.1086/379525

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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

American journal of human genetics - 1 Nov 2003

Senderek Jan, Bergmann Carsten, Stendel Claudia, Kirfel Jutta, Verpoorten Nathalie, De Jonghe Peter, Timmerman Vincent, Chrast Roman, Verheijen Mark H G, Lemke Greg, Battaloglu Esra, Parman Yesim, Erdem Sevim, Tan Ersin, Topaloglu Haluk, Hahn Andreas, Müller-Felber Wolfgang, Rizzuto Nicolò, Fabrizi Gian Maria, Stuhrmann Manfred, Rudnik-Schöneborn Sabine, Züchner Stephan, Michael Schröder J, Buchheim Eckhard, Straub Volker, Klepper Jörg, Huehne Kathrin, Rautenstrauss Bernd, Büttner Reinhard, Nelis Eva, Zerres Klaus

Abstract excerpt

Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited as an autosomal recessive trait and has been mapped to a 13-cM linkage interval on chromosome 5q23-q33. By homozygosity mapping and allele-sharing analysis, we refined the CMT4C locus to a...

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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

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