title: Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
abstract: 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.affiliation: Department of Medicine, Joseph and Kathleen Bryan Alzheimer's Disease Research Center, Duke University Medical Center, Durham, N.C. 27710, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: D F
authors.initials: DF
authors.lastname: Barker
authors.forename: J A
authors.initials: JA
authors.lastname: Bergoffen
authors.forename: P
authors.initials: P
authors.lastname: Chance
authors.forename: S
authors.initials: S
authors.lastname: Cochrane
authors.forename: N
authors.initials: N
authors.lastname: Dahl
authors.forename: M C
authors.initials: MC
authors.lastname: Exler
authors.forename: P R
authors.initials: PR
authors.lastname: Fain
authors.forename: N D
authors.initials: ND
authors.lastname: Fairweather
authors.forename: K
authors.initials: K
authors.lastname: Fischbeck
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D017630:Connexins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein