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  • Title: X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability.
    Author: Niewiadomski LA, Kelly TE.
    Journal: Am J Med Genet; 1996 Dec 11; 66(2):175-8. PubMed ID: 8958325.
    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.
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