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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

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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