Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.

Abstract excerpt

Duchenne muscular dystrophy is a neuromuscular disease caused by DMD gene mutations that result in an absence of functional dystrophin protein. Patients with Duchenne experience progressive muscle weakness, are typically wheelchair dependent by their early teens, and develop respiratory and cardiac complications that lead to death in their twenties or thirties. Becker muscular dystrophy is also caused by DMD gene...

Topics

• Humans
• Muscular Dystrophy, Duchenne
• Dystrophin
• Male
• Middle Aged
• Phenotype
• Follow-Up Studies
• Pedigree