Prevalent cardiac involvement in dystrophin Becker type mutation

G. Siciliano, M. Fanin, C. Angelini, L. E. Pollina, M. Miorin, F. A. Saad, M. P. Freda, A. Muratorio

Research output: Contribution to journalArticlepeer-review

Abstract

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. Very mild signs of skeletal myopathy were clinically evident. His mother was affected by an indefinite cardiopathy and suddenly died when she was 36 yr old. Muscle biopsy of the patient showed a dystrophic process. Dystrophin analysis together with a genetic DMD locus study led us to diagnose Becker type muscular dystrophy, with truncated dystrophin and a gene deletion extending from exon 45 to 48. Prevalent cardiac involvement in a Becker type mutation of the dystrophin gene further confirms clinical variability of dystrophinopathies.

Original languageEnglish
Pages (from-to)381-386
Number of pages6
JournalNeuromuscular Disorders
Volume4
Issue number4
DOIs
Publication statusPublished - 1994

Keywords

  • Becker muscular dystrophy
  • dilated cardiomyopathy
  • Dystrophin

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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