Abstract
Dystrophin is a protein product of the X-linked gene mutation that is responsible for Duchenne and Becker muscular dystrophies. The protein binds actin and associates with dystrophin-glycoprotein complex to link the cytoskeleton to the extracellular matrix. Defects in the components of the dystrophin-glycoprotein complex are responsible for several phenotypes of muscular dystrophy.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Cytoskeletal Proteins / genetics
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Cytoskeletal Proteins / physiology*
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Dystrophin / genetics
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Dystrophin / physiology*
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Humans
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Membrane Proteins / genetics
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Membrane Proteins / physiology*
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Muscular Dystrophies / genetics
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Muscular Dystrophies / physiopathology*
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Muscular Dystrophy, Animal / genetics
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Muscular Dystrophy, Animal / physiopathology
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Phenotype
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Utrophin
Substances
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Cytoskeletal Proteins
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Dystrophin
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Membrane Proteins
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Utrophin