Dystrophin-related protein in Becker muscular dystrophy

Intern Med. 1994 Jun;33(6):334-6. doi: 10.2169/internalmedicine.33.334.

Abstract

A benign Becker muscular dystrophy (BMD) patient with a marked decrease in dystrophin exhibited remarkable expression of dystrophin-related protein (DRP) on most of the muscle cell membrane. A phenotypic Duchenne muscular dystrophy patient with a truncated form of dystrophin exhibited no DRP expression on the muscle cell membrane except for the neuromuscular junction. Increased DRP expression might compensate for a lack of dystrophin in some BMD patients.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Antibodies, Monoclonal / immunology
  • Cell Membrane / chemistry
  • Chromosomes, Human, Pair 6 / genetics
  • Cytoskeletal Proteins / analysis*
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / immunology
  • Dystrophin / analysis
  • Exons / genetics
  • Humans
  • Immunohistochemistry
  • Male
  • Membrane Proteins*
  • Muscle Fibers, Skeletal / chemistry*
  • Muscle Fibers, Skeletal / pathology
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology
  • Phenotype
  • Polymerase Chain Reaction
  • Up-Regulation
  • Utrophin

Substances

  • Antibodies, Monoclonal
  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Proteins
  • Utrophin