X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability.
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.
Niewiadomski
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LA
Division of Medical Genetics, University of Virginia School of Medicine, Charlottesville, USA.
Kelly
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TE
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D017630:Connexins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction; D010375:Pedigree; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D000097002:Gap Junction beta-1 Protein