PREVALENT CARDIAC INVOLVEMENT IN DYSTROPHIN BECKER TYPE MUTATION

Myocardial involvement is frequently present in Xp21-linked muscular d ystrophy, due to a lack of dystrophin in cardiac fibres. We describe a 41-yr-old man affected by dilated cardiomyopathy with sporadic episod es of myoglobinuria induced by effort and increased levels of serum cr eatine kinase. Very mild signs of skeletal myopathy were clinically ev ident. His mother was affected by an indefinite cardiopathy and sudden ly died when she was 36 yr old. Muscle biopsy of the patient showed a dystrophic process. Dystrophin analysis together with a genetic DMD lo cus study led us to diagnose Pecker type muscular dystrophy, with trun cated dystrophin and a gene deletion extending from exon 45 to 48. Pre valent cardiac involvement in a Pecker type mutation of the dystrophin gene further confirms clinical variability of dystrophinopathies.