X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene
✍ Scribed by Catherine Ressot; Philippe Latour; Françoise Blanquet-Grossard; Franck Sturtz; Sylvie Duthel; Jacques Battin; Emmanuel Corbillon; Elizabeth Ollagnon; Françoise Serville; Antoon Vandenberghe; André Dautigny; D. Pham-Dinh
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 55 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
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We studied the relationship between the genotype and clinical phenotype in 27 families with dominant X-linked Charcot-Marie-Tooth (CMTX1) neuropathy. Twenty-two families showed mutations in the coding region of the connexin32 (cx32) gene. The mutations include four nonsense mutations, eight missense
by R d G. Worton Charcot-Marie tooth disease, a pathologically and genetically heterogeneous group of disorders that causes a progressive neuropathy, is characterized by weakness and atrophy, primarily in peroneal and distal leg muscles. It is defined patholog-Mutation leads to 10s:. of this Mae 111