Inherited disorders of the extracellular matrix

Curr Opin Neurol. 1999 Oct;12(5):519-26. doi: 10.1097/00019052-199910000-00005.


Primary and secondary defects in extracellular matrix proteins emphasize the role of these proteins in neuromuscular disorders; mutations have been found in the genes for the laminin-alpha 2 chain, for all three alpha chains of collagen VI and for integrin alpha 2. Secondary alterations in protein expression occur in association with these primary defects, and in other disorders they implicate the extracellular matrix. Animal models are helping to elucidate the function of some of these proteins, to develop therapeutic strategies and to suggest candidate proteins for other neuromuscular disorders.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Extracellular Matrix Proteins / genetics
  • Extracellular Matrix Proteins / physiology*
  • Humans
  • Mutation / physiology
  • Neuromuscular Diseases / genetics*
  • Neuromuscular Diseases / physiopathology*


  • Extracellular Matrix Proteins