A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom

Brain Dev. 1995 May-Jun;17(3):202-5. doi: 10.1016/0387-7604(95)00018-7.

Abstract

A 29-year-old female developed dilated cardiomyopathy at 20 years of age but with no muscle symptoms. Her 2-year-old son with Duchenne muscular dystrophy (DMD)_had no demonstrable deletion in the dystrophin gene, but all fibers except for 5% 'revertant' fibers in a muscle biopsy specimen had no dystrophin. Both skeletal and cardiac muscle biopsy specimens from the mother showed a mosaic distribution of dystrophin-positive and -negative fibers, and so she was diagnosed as being a manifesting carrier of DMD. We conclude that, when one encounters a female patient with idiopathic cardiomyopathy with a high serum creatine kinase level, the suspicion of her being a manifesting DMD carrier should be ruled out.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Cardiomyopathy, Dilated / complications
  • Cardiomyopathy, Dilated / genetics*
  • Creatine Kinase / blood
  • Dystrophin / analysis
  • Female
  • Heterozygote
  • Humans
  • Muscle Fatigue / physiology
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / physiopathology*
  • Muscular Dystrophies / genetics*

Substances

  • Dystrophin
  • Creatine Kinase