Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.

Journal article

Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. X-linked CMT (CMTX1) has been localized to the pericentric region of the X chromosome. Recently, mutations have been defined in the connexin32 gene that cosegregate with the CMTX1 phenotype in several families. The present paper presents the results of an international consortium to fine map the gene for CMTX1 to a small segment of Xq12-13. The linkage data, together with the molecular genetic studies, support the hypothesis that connexin32 is the genetic defect in CMTX1.

Authors: Pericak-Vance, M; Barker, D; Bergoffen, J; Chance, P; Cochrane, S

• Publication status: Published
• Journal: Human heredity
• Volume: 45
• Issue: 3
• Pages: 121-128
• Publication date: 1995-05-01
• DOI: 10.1159/000154272
• EISSN: 1423-0062
• ISSN: 0001-5652
• Language: English
• Keywords: Male; Genetic Linkage; Female; Charcot-Marie-Tooth Disease; X Chromosome; Haplotypes; Chromosome Mapping; Humans; Connexins