Article
Prevalent cardiac involvement in dystrophin Becker type mutation.
Neuromuscular disorders : NMD - 1 Jul 1994
Siciliano G, Fanin M, Angelini C, Pollina L E, Miorin M, Saad F A, Freda M P, Muratorio A
Abstract excerpt
Myocardial involvement is frequently present in Xp21-linked muscular dystrophy, due to a lack of dystrophin in cardiac fibres. We describe a 41-yr-old man affected by dilated cardiomyopathy with sporadic episodes of myoglobinuria induced by effort and increased levels of serum creatine kinase. Ve...
Topics
- Adult
- Biopsy
- Cardiomyopathy, Dilated
- DNA
- Dystrophin
- Fluorescent Antibody Technique
- Gene Deletion
- Genome
- Humans
- Male
- Muscles
- Muscular Dystrophies
- Mutation