title: X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.
abstract: A large kindred with the X-linked dominant form of peroneal muscular atrophy (Charcot-Marie-Tooth disease) was analyzed for individual variation in the length of DNA fragments after restriction endonuclease digestion. A systematic search was performed for linkage with a series of cloned single-copy DNA sequences of known regional assignment to the human X chromosome. Close linkage was found with the pDP34 probe (DXYS1 locus, Xq13-q21), suggesting that the gene responsible for the disease is located on the proximal long arm of the X chromosome.
authors.forename: A
authors.initials: A
authors.lastname: Gal
authors.forename: J
authors.initials: J
authors.lastname: Mücke
authors.forename: H
authors.initials: H
authors.lastname: Theile
authors.forename: P F
authors.initials: PF
authors.lastname: Wieacker
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: T F
authors.initials: TF
authors.lastname: Wienker
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D011110:Polymorphism, Genetic; D014960:X Chromosome
chemical_list: D004247:DNA; D004262:DNA Restriction Enzymes