Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining

Neuromuscul Disord. 1992;2(1):47-50. doi: 10.1016/0960-8966(92)90026-3.

Abstract

Becker muscular dystrophy (BMD) often results from in-frame mutations of the dystrophin gene, leading to the production of an altered-sized protein. We examined the expression of dystrophin in a BMD patient and in his asymptomatic mother by Western blot and immunofluorescence. The combination of these techniques allowed us to demonstrate the presence of two different dystrophins, normal-sized or reduced-sized in the muscular fibers of the asymptomatic carrier. This result emphasizes the value of dystrophin analysis for carrier detection and genetic counselling of families with Becker muscular dystrophy.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Antibodies, Monoclonal
  • Blotting, Western
  • Dystrophin / genetics*
  • Dystrophin / immunology
  • Female
  • Fluorescent Antibody Technique
  • Heterozygote*
  • Humans
  • Male
  • Muscles / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology

Substances

  • Antibodies, Monoclonal
  • Dystrophin