Muscular dystrophies: genes to pathogenesis

Curr Opin Genet Dev. 2003 Jun;13(3):231-8. doi: 10.1016/s0959-437x(03)00048-0.

Abstract

Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. Nearly 30 genes are known to give rise to various forms of muscular dystrophy, which differ in age of onset, severity, and muscle groups affected. The number of genes identified increases each year, adding to our understanding as well as revealing the overall complexity of the pathogenesis of these diseases.

Publication types

  • Review

MeSH terms

  • Animals
  • Cytoskeletal Proteins / metabolism
  • Dystroglycans
  • Dystrophin / genetics*
  • Dystrophin / metabolism
  • Dystrophin-Associated Proteins*
  • Humans
  • Membrane Glycoproteins / metabolism
  • Membrane Proteins / metabolism
  • Muscle Proteins / metabolism
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology
  • Neuropeptides / metabolism

Substances

  • Cytoskeletal Proteins
  • DAG1 protein, human
  • Dystrophin
  • Dystrophin-Associated Proteins
  • Membrane Glycoproteins
  • Membrane Proteins
  • Muscle Proteins
  • Neuropeptides
  • syntrophin
  • Dystroglycans