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

American Journal of Medical Genetics
L A Niewiadomski, T E Kelly

Abstract

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 X-linked 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.

References

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Citations

Feb 13, 2009·American Journal of Medical Genetics. Part a·Thaddeus E Kelly
Jun 16, 2006·Neuromolecular Medicine·Kleopas A Kleopa, Steven S Scherer
Aug 22, 2001·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·T J Benstead, I A Grant
Jan 17, 2020·Molecular Genetics & Genomic Medicine·Yingdi LiuLingqian Wu

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