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Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

✍ 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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πŸ“œ SIMILAR VOLUMES


X-LINKED CHARCOT-MARIE-TOOTH DISEASE AND
✍ Victor V. Ionasescu πŸ“‚ Article πŸ“… 1998 πŸ› Elsevier Science 🌐 English βš– 166 KB

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

Novel mutations in the connexin 32 gene
✍ Charles C. Tan; Peter J. Ainsworth; Angelika F. Hahn; Patrick M. MacLeod πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 480 KB πŸ‘ 2 views

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

Correlation between connexin 32 gene mut
✍ Ionasescu, Victor; Ionasescu, Rebecca; Searby, Charles πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 44 KB πŸ‘ 2 views

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