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
Four novel connexin 32 mutations in X–linked Charcot–Marie–Tooth disease with phenotypic variability
✍ Scribed by G. Karadima; M. Panas; P. Floroskufi; N. Kalfakis; D. Vassilopoulos
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 134 KB
- Volume
- 253
- Category
- Article
- ISSN
- 0340-5354
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
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