Molecular genetics of X-linked Charcot-Marie-Tooth disease
✍ Scribed by Kleopas A. Kleopa; Steven S. Scherer
- Book ID
- 111641633
- Publisher
- Humana Press Inc
- Year
- 2006
- Tongue
- English
- Weight
- 571 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1535-1084
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This report describes two families with type 1 Charcot-Marie-Tooth disease (CMTX), or hereditary motor sensory neuropathy type 1. Pedigree analysis is consistent with Xlinked recessive inheritance in one family and X-linked dominant inheritance in the second. In the first family, a mutation in the c
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