Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy

Lancet. 1993 Feb 27;341(8844):521-2. doi: 10.1016/0140-6736(93)90279-p.

Abstract

The absence of dystrophin causes Duchenne muscular dystrophy. Dystrophin is associated with a large complex of sarcolemmal glycoproteins which provides a linkage to the extracellular matrix component, laminin, and when dystrophin is absent all the dystrophin-associated proteins are much reduced. We report here that dystrophin-associated proteins have abnormally low expression in Fukuyama-type congenital muscular dystrophy (FCMD), despite near-normal expression of dystrophin. An abnormality of dystrophin-associated proteins in the sarcolemma seems to be a common denominator in the pathological processes leading to muscle cell necrosis in three forms of severe muscular dystrophy (Duchenne, Japanese Fukuyama-type, and north African Duchenne-like autosomal recessive).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cytoskeletal Proteins / analysis*
  • Dystroglycans
  • Dystrophin / analysis
  • Female
  • Humans
  • Immunohistochemistry
  • Male
  • Membrane Glycoproteins*
  • Membrane Proteins*
  • Muscles / chemistry*
  • Muscular Dystrophies / congenital
  • Muscular Dystrophies / metabolism*
  • Utrophin

Substances

  • Cytoskeletal Proteins
  • DAG1 protein, human
  • Dystrophin
  • Membrane Glycoproteins
  • Membrane Proteins
  • Utrophin
  • Dystroglycans