title: Sarcolemmal defect and subsarcolemmal lesion in a patient with gamma-sarcoglycan deficiency.
abstract: We report a case of gamma-sarcoglycanopathy with sarcolemmal defects and subsarcolemmal lesions indistinguishable from those in Duchenne muscular dystrophy. Both disorders share certain ultrastructure features that suggest a common pathogenesis related to primary deficiency of transmembrane glycoproteins (e.g., sarcoglycans) or deficiency in dystrophin, which produces a secondary deficiency in sarcoglycans. The lack of transmembrane glycoproteins may contribute to membrane lesions and associated muscle fiber degeneration and necrosis.
authors.affiliation: Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA.
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.forename: D W
authors.initials: DW
authors.lastname: Dickson
authors.forename: A J
authors.initials: AJ
authors.lastname: Spiro
mesh_terms: D002648:Child; D003598:Cytoskeletal Proteins / Q000172:deficiency* / Q000378:metabolism; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000378:metabolism; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000378:metabolism / Q000473:pathology; D012016:Reference Values; D049031:Sarcoglycans; D012508:Sarcolemma / Q000473:pathology*
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans