Delayed expression of dystrophin on regenerating muscle from two siblings with Becker muscular dystrophy

J Neurol Sci. 1992 Jul;110(1-2):165-8. doi: 10.1016/0022-510x(92)90024-f.

Abstract

We present here a unique expression of dystrophin on biopsied muscle from 2 siblings with Becker muscular dystrophy (BMD). They had neither muscle weakness nor atrophy. Clustered dystrophin-deficient fibers were constituted to regenerating basophilic fibers (mainly type 2C fiber) based on histochemical stainings. We speculate that the developmental delay in the expression of dystrophin is a characteristic finding in regenerating fibers from asymptomatic and young BMD patients, such as the siblings in this report.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Dystrophin / analysis
  • Dystrophin / metabolism*
  • Humans
  • Immunoblotting
  • Immunoenzyme Techniques
  • Male
  • Muscles / metabolism*
  • Muscles / pathology
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology
  • Myosins / analysis

Substances

  • Dystrophin
  • Myosins