title: Localization of the gene for X-linked spinal muscular atrophy.
abstract: We used probes for DNA polymorphisms on the X chromosome to study genetic linkage in seven families with X-linked adult-onset spinal muscular atrophy. We found significant linkage to the marker DXYS1 on the proximal X chromosome long arm and loose linkage or nonlinkage to markers elsewhere. Our analysis localizes the gene defect for this form of anterior horn cell disease.
authors.forename: K H
authors.initials: KH
authors.lastname: Fischbeck
authors.forename: V
authors.initials: V
authors.lastname: Ionasescu
authors.forename: A W
authors.initials: AW
authors.lastname: Ritter
authors.forename: R
authors.initials: R
authors.lastname: Ionasescu
authors.forename: K
authors.initials: K
authors.lastname: Davies
authors.forename: S
authors.initials: S
authors.lastname: Ball
authors.forename: P
authors.initials: P
authors.lastname: Bosch
authors.forename: T
authors.initials: T
authors.lastname: Burns
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
authors.forename: J
authors.initials: J
authors.lastname: Borkowska
mesh_terms: D000328:Adult; D000368:Aged; D004247:DNA; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D011110:Polymorphism, Genetic; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA