A normal male with an inherited deletion of one exon within the DMD gene

Hum Genet. 1990 Jan;84(2):207-9. doi: 10.1007/BF00208944.

Abstract

We describe two brothers with identical inherited deletions of one single exon within the middle of the DMD gene; one brother has Becker muscular dystrophy diagnosed at 11 years of age, whereas the older brother is normal at 18. These results have implications for genetic counselling and prenatal diagnosis in families with Becker muscular dystrophy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Chromosome Deletion*
  • DNA / genetics
  • Dystrophin
  • Exons*
  • Female
  • Humans
  • Male
  • Muscle Proteins / genetics
  • Muscular Dystrophies / genetics*

Substances

  • Dystrophin
  • Muscle Proteins
  • DNA