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X-linked Charcot-Marie-Tooth disease: Molecular analysis of interfamilial variability

✍ Scribed by Niewiadomski, Laura A.; Kelly, Thaddeus E.

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
340 KB
Volume
66
Category
Article
ISSN
0148-7299

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✦ Synopsis

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 connexin32 gene has been demonstrated and analyzed in family members. In the second family, linkage analysis is consistent with a mutation at the same locus. This report demonstrates the interfamilial variability in X-linked CMT and underscores the observation that regardless of the pattern of inheritance, X-linked CMT constitutes a single, variable disorder. @

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