Asymptomatic Becker muscular dystrophy: expression of dystrophin and dystrophin-related protein

Pediatr Neurol. 1993 May-Jun;9(3):207-9. doi: 10.1016/0887-8994(93)90086-r.

Abstract

The expression of dystrophin and a dystrophin-related protein in muscle from 3 asymptomatic Becker muscular dystrophy patients is reported. Histology demonstrated moderate variation in fiber size with clustered basophilic regenerating fibers. Immunostaining for dystrophin revealed a patchy appearance on most fibers, but never on clustered regenerating fibers. Those regenerating fibers did, however, have positive immunoreactivity to a dystrophin-related protein. It is speculated that overexpression of the dystrophin-related protein in regenerating muscle fibers may contribute to the slow progression of muscle weakness or atrophy.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Child
  • Child, Preschool
  • Cytoskeletal Proteins / analysis
  • Cytoskeletal Proteins / genetics*
  • Dystrophin / analysis
  • Dystrophin / genetics*
  • Gene Expression Regulation / physiology
  • Humans
  • Immunoenzyme Techniques
  • Male
  • Membrane Proteins*
  • Muscles / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Utrophin

Substances

  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Proteins
  • Utrophin