Function and genetics of dystrophin and dystrophin-related proteins in muscle.

@article{Blake2002FunctionAG,
  title={Function and genetics of dystrophin and dystrophin-related proteins in muscle.},
  author={Derek J Blake and Andrew Weir and Sarah E Newey and K. E. Davies},
  journal={Physiological reviews},
  year={2002},
  volume={82 2},
  pages={291-329}
}
The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations in the gene encoding dystrophin. There is currently no effective treatment for the disease; however, the complex molecular pathology of this disorder is now being unravelled. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. Mutations in many components of the dystrophin protein complex cause other forms of autosomally… CONTINUE READING
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