title: X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.
abstract: X linked dominant Charcot-Marie-Tooth disease (CMTX1) has previously been localised to Xq13-21. Fifteen families were studied using 12 highly informative polymorphisms in the pericentric region of the X chromosome. Phase known recombinations in these families localise the X linked dominant CMT gene to the region distal to DXS106 (Xq11.2-12) and proximal to DXS559 (Xq13.1). These markers flank approximately 2 to 3 Mb of DNA to which GJB1 and CCG1 have already been mapped. A recent report of mutations in the GJB1 gene in subjects with CMTX1 makes this a strong candidate gene.
authors.affiliation: Department of Molecular and Cell Biology, University of Aberdeen Medical School, Foresterhill, UK.
authors.forename: S
authors.initials: S
authors.lastname: Cochrane
authors.forename: J
authors.initials: J
authors.lastname: Bergoffen
authors.forename: N D
authors.initials: ND
authors.lastname: Fairweather
authors.forename: E
authors.initials: E
authors.lastname: Müller
authors.forename: M L
authors.initials: ML
authors.lastname: Mostacciuolo
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
authors.forename: N E
authors.initials: NE
authors.lastname: Haites
mesh_terms: D002453:Cell Cycle; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D017630:Connexins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein