Molecular Analysis of the Duchenne Muscular Dystrophy Gene in Patients With Becker Muscular Dystrophy Presenting With Dilated Cardiomyopathy

Muscle Nerve. 1993 Nov;16(11):1161-6. doi: 10.1002/mus.880161104.

Abstract

Molecular analysis of the Duchenne muscular dystrophy (DMD) gene was performed on 4 unrelated patients with Becker muscular dystrophy (BMD) presenting with dilated cardiomyopathy. Two patients with a deletion involving exon 1 were quite unique in that they developed fatal myocardial involvement in their teens, despite the absence of significant muscular weakness. The deletion found in these patients comprised the 3'-end of exon 1 and the greater part of intron 1. Two other patients with a deletion of exon 47 showed progressive muscular atrophy and weakness; they were considered to be typical BMD in both clinical features and the type of gene deletion. We speculate that a deletion around exon 1 may severely damage the expression and/or the function of dystrophin selectively in cardiac muscle, but not in skeletal muscle.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / pathology
  • Child
  • DNA / genetics
  • Dystrophin / genetics
  • Exons / genetics
  • Gene Deletion*
  • Gene Expression
  • Humans
  • Male
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Phenotype

Substances

  • Dystrophin
  • DNA