Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies.
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.
Division of Neurology, The Children's Hospital of Philadelphia, PA 19104, USA.
Carsten G
CG
Bönnemann
Richard S
RS
Finkel
D000293:Adolescent; D001284:Atrophy / Q000473:pathology; D051244:Caveolin 3; D022461:Caveolins / Q000235:genetics / Q000378:metabolism; D002648:Child; D024142:Collagen Type VI / Q000235:genetics / Q000378:metabolism; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000378:metabolism; D000073939:Dysferlin; D049030:Dystroglycans; D049029:Dystrophin-Associated Proteins; D006801:Humans; D016023:Integrins / Q000235:genetics / Q000378:metabolism; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism*; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D049411:Utrophin
D051244:Caveolin 3; D022461:Caveolins; D024142:Collagen Type VI; D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; C114839:DYSF protein, human; D000073939:Dysferlin; D049029:Dystrophin-Associated Proteins; D016023:Integrins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009124:Muscle Proteins; C109742:SLMAP protein, human; D049411:Utrophin; C098885:dystrobrevin; C091824:syntrophin; D049030:Dystroglycans