Familial scapuloperoneal myopathy and mitochondrial DNA defect.

Abstract excerpt

The authors present 13 members of 4 generations in a family with scapuloperoneal myopathy. The disease showed autosomal dominant inheritance. In all 6 patients examined, the disease began in the third decade (18-31 years). Initially the shoulder girdle was involved, and the process slowly spread to the distal part of the lower extremities in several years or decades. The facial and pelvic muscles were only...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Biopsy
• Share to Disease Progression
• Share to Electromyography