Abstract
Proteins of the sarcolemma are of crucial importance for the pathogenesis of muscular dystrophies. This update focuses on the dystrophin-associated proteins including the dystroglycan and sarcoglycan complexes, caveolin-3, dysferlin, and the extracellular matrix component collagen type VI. The molecular findings are correlated with some of the clinical phenotypes that are part of the limb-girdle muscular dystrophy spectrum, including fukutin-related proteinopathy (LGMD 21), the sarcoglycanopathies (LGMD 2C-F), caveolinopathy (LGMD 1C), dysferlinopathy (LGMD 2B), and finally Bethlem myopathy. Although recent progress has been tremendous, much remains to be learned about the pathophysiological consequences caused by a deficiency of any one of these components.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Adolescent
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Atrophy / pathology
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Caveolin 3
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Caveolins / genetics
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Caveolins / metabolism
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Child
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Collagen Type VI / genetics
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Collagen Type VI / metabolism
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Cytoskeletal Proteins / genetics
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Cytoskeletal Proteins / metabolism
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Dysferlin
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Dystroglycans
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Dystrophin-Associated Proteins*
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Humans
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Integrins / genetics
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Integrins / metabolism
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Membrane Glycoproteins / genetics
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Membrane Glycoproteins / metabolism
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Membrane Proteins / genetics*
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Membrane Proteins / metabolism*
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Muscle Proteins / genetics
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Muscle Proteins / metabolism
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscular Dystrophies / genetics*
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Muscular Dystrophies / metabolism*
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Muscular Dystrophies / pathology
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Utrophin
Substances
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Caveolin 3
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Caveolins
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Collagen Type VI
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Cytoskeletal Proteins
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DAG1 protein, human
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DYSF protein, human
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Dysferlin
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Dystrophin-Associated Proteins
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Integrins
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Membrane Glycoproteins
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Membrane Proteins
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Muscle Proteins
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SLMAP protein, human
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Utrophin
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dystrobrevin
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syntrophin
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Dystroglycans