Sarcolemmal defect and subsarcolemmal lesion in a patient with gamma-sarcoglycan deficiency.
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.
Li
M
M
Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA.
Dickson
D W
DW
Spiro
A J
AJ
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*
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans