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
A point mutation in codon 3 of connexin-32 is associated with X-linked charcot-marie-tooth neuropathy
โ Scribed by Sanjoy Gupta; Timothy Benstead; Paul Neumann; Duane Guernsey
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 236 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1059-7794
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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
Connexin32 (Cx32) is a gap junction protein and its mutations are responsible for X-linked Charcot-Marie-Tooth disease. We examined the functional abnormality of C6 glioma cells transfected with mutant (C53S and P172R) Cx32 genes. Nontransfected C6 did not express Cx32. Northern and Western blot ana