title: Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.
abstract: Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogenous group of disorders, with both recessive and dominant forms reported. Recently, a series of recessive LGMD families were linked to chromosome 15q. We report herein the results of our linkage studies in a previously reported large autosomal dominant family. The LGMD gene in this family was localized to chromosome 5q22.3-31.3 by using a series of CA(n) microsatellite repeat markers. Linkage to 15q was excluded. These findings confirm genetic heterogeneity in this clinically diverse syndrome.
authors.affiliation: Division of Neurology, Duke University Medical Center, Durham, NC 27710.
authors.forename: M C
authors.initials: MC
authors.lastname: Speer
authors.forename: L H
authors.initials: LH
authors.lastname: Yamaoka
authors.forename: J H
authors.initials: JH
authors.lastname: Gilchrist
authors.forename: C P
authors.initials: CP
authors.lastname: Gaskell
authors.forename: J M
authors.initials: JM
authors.lastname: Stajich
authors.forename: J M
authors.initials: JM
authors.lastname: Vance
authors.forename: A
authors.initials: A
authors.lastname: Kazantsev
authors.forename: A A
authors.initials: AA
authors.lastname: Lastra
authors.forename: C S
authors.initials: CS
authors.lastname: Haynes
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
mesh_terms: D002461:Cell Line, Transformed; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007962:Leukocytes / Q000502:physiology; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D005819:Genetic Markers; D004247:DNA