Inherited disorders of the extracellular matrix.
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.
Sewry
C A
CA
Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, London, UK. c.sewry@ic.ac.uk
Muntoni
F
F
D000818:Animals; D004195:Disease Models, Animal; D016326:Extracellular Matrix Proteins / Q000235:genetics / Q000502:physiology*; D006801:Humans; D009154:Mutation / Q000502:physiology; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000503:physiopathology*
D016326:Extracellular Matrix Proteins