Article
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.
Neurology - 27 Feb 2001
Gamez J, Navarro C, Andreu A L, Fernandez J M, Palenzuela L, Tejeira S, Fernandez-Hojas R, Schwartz S, Karadimas C, DiMauro S, Hirano M, Cervera C
Abstract excerpt
BACKGROUND: Fourteen genetically distinct forms of limb-girdle muscular dystrophy (LGMD) have been identified, including five types of autosomal dominant LGMD (AD-LGMD). OBJECTIVE: To describe clinical, histologic, and genetic features of a large Spanish kindred with LGMD and apparent autosomal dominant inheritance spanning five generations. METHOD: The authors examined 61 members of the family; muscle biopsies...
Topics
- Adolescent
- Adult
- Aged
- Biopsy
- Child
- Female
- Genetic Linkage
- Humans
- Male
- Microscopy, Electron
- Middle Aged
- Muscles