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
Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings
β Scribed by Luca Padua; Tiziana Cavallaro; Davide Pareyson; Aldo Quattrone; Giuseppe Vita; Angelo Schenone; the Italian CMT QoL Study Group
- Publisher
- Springer Milan
- Year
- 2008
- Tongue
- English
- Weight
- 31 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1590-1874
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Charcot-Marie-Tooth type 1B is an uncommon form of hereditary motor and sensory neuropathy caused by mutations in the Po myelin protein gene on chromosome 1. We report here a 20-year observation of 13 members of the first family with Charcot-Marie-Tooth disease to demonstrate linkage to chromosome 1
In a cross-sectional, clinical, and morphometric analysis we assessed the correlation between the clinical and pathological evolution of disease in 20 unrelated patients of various ages affected by Charcot-Marie-Tooth neuropathy type 1A (CMT1A) with the 17p11.2p12 (peripheral myelin protein 22, PMP2