Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.
Journal Article (Journal Article)
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.
- Gilchrist, JM; Pericak-Vance, M; Silverman, L; Roses, AD
- January 1988
Volume / Issue
- 38 / 1
Start / End Page
- 5 - 9
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)
- United States