Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
β Scribed by E. A. M. Janssen; Stephan Kemp; Gerard W. Hensels; Ongie G. Sie; Christine E. M. de Die-Smulders; Jessica E. Hoogendijk; Marianne de Visser; Pieter A. Bolhuis
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 31 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0340-6717
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We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size deletions and one insertion. Most missense mutations
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
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