title: Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.
abstract: Limb-girdle muscular dystrophy is a syndrome of progressive myopathic weakness affecting shoulder and hip girdle and proximal arm and leg muscles. The disease occurs either sporadically or inherited as an autosomal recessive trait. Autosomal dominant inheritance is rare. We report a large family with apparent autosomal dominant inheritance. Sixteen members were affected with a disease characterized by proximal weakness, leg greater than arm, onset in the third decade, elevated CK and CK MB levels, and myopathic EMGs and muscle biopsies. Linkage analysis revealed no conclusive linkage.
authors.affiliation: Division of Neurology, Duke University Medical Center, Durham, NC.
authors.forename: J M
authors.initials: JM
authors.lastname: Gilchrist
authors.forename: M
authors.initials: M
authors.lastname: Pericak-Vance
authors.forename: L
authors.initials: L
authors.lastname: Silverman
authors.forename: A D
authors.initials: AD
authors.lastname: Roses
mesh_terms: D000293:Adolescent; D000328:Adult; D003402:Creatine Kinase / Q000378:metabolism; D004576:Electromyography; D005799:Genes, Dominant; D008040:Genetic Linkage; D005821:Genetic Techniques; D006801:Humans; D007527:Isoenzymes; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree
chemical_list: D007527:Isoenzymes; D003402:Creatine Kinase