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- W150080412 abstract "The muscular dystrophies are disorders characterized by progressive degeneration of skeletal muscle. The prototypical form is Duchenne muscular dystrophy, an X-linked disorder, but there are nearly 20 rarer similar disorders called limb-girdle dystrophies or congenital muscular dystrophies. Duchenne dystrophy is caused by loss of dystrophin, a 427 kDa cytoskeletal actin-binding protein. A cluster of proteins that form an integral membrane complex (dystroglycans, sarcoglycans) links dystrophin to the extracellular matrix. This bridge provides the sarcolemma with critical mechanical stability. Mutations in the dystrophin-associated proteins are the cause of several limb-girdle dystrophies. Glycosylation of several of these proteins is essential for normal function. Mutations in putative glycosyltransferases which apparently facilitate this glycosylation are responsible for some congenital muscular dystrophies and limb-girdle dystrophies." @default.
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- W150080412 date "2009-01-01" @default.
- W150080412 modified "2023-09-30" @default.
- W150080412 title "Dystrophin, Associated Proteins, and Muscular Dystrophy" @default.
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- W150080412 doi "https://doi.org/10.1016/b978-008045046-9.00581-7" @default.
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