A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features
โ Scribed by Georgia Karadima; Marios Panas; Paraskewi Floroskufi; Nikolaos Kalfakis; Demetris Vassilopoulos
- Publisher
- Springer
- Year
- 2004
- Tongue
- English
- Weight
- 201 KB
- Volume
- 251
- Category
- Article
- ISSN
- 0340-5354
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๐ SIMILAR VOLUMES
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
X-linked Charcot-Marie-Tooth disease (CMTX) is the second most common form of Charcot-Marie-Tooth disease. Variable histopathological and nerve conduction velocity (NCV) results have suggested either a primary demyelinating or axonal polyneuropathy. We identified five individuals across three genera
## Abstract Introduction: In this study we report a novel mutation in the gap junction protein beta 1 (__GJB1__) gene of a Chinese Xโlinked CharcotโMarieโTooth disease (CMTX1) family, which has specific electrophysiological characteristics. Methods: Twenty members in the family were studied by clin