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New point mutations and deletions of the connexin 32 gene in x-linked charcot-marie-tooth neuropathy

✍ Scribed by V. Ionasescu; Ch Searby; R. Ionasescu; W. Meschino


Book ID
116168525
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
239 KB
Volume
5
Category
Article
ISSN
0960-8966

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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