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
Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant charcot-marie-tooth neuropathy
β Scribed by Federica Schiavon; Cinzia Fracasso; Maria L. Mostacciuolo
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 273 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1059-7794
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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
The coding region of Cx32 was amplified by touchdown polymerase chain reaction (PCR) (Don et al., 1991). Three primer sets were used corresponding to nucleotides 54-77 (CX32-1) and 336-359 (CX32-2), i.e., part 1, 273-269 (Cx32-3) and 685-704 (Cx32-5), i.e., part 2, and 635-658 (Cx32-S1) and 919-938
DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto und
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