SARCOLEMMAL DEFECT AND SUBSARCOLEMMAL LESION IN A PATIENT WITH GAMMA-SARCOGLYCAN DEFICIENCY

We report a case of gamma-sarcoglycanopathy with sarcolemmal defects a nd subsarcolemmal lesions indistinguishable from those in Duchenne mus cular dystrophy. Both disorders share certain ultrastructure features that suggest a common pathogenesis related to primary deficiency of tr ansmembrane glycoproteins (e.g., sarcoglycans) or deficiency in dystro phin, which produces a secondary deficiency in sarcoglycans. The lack of transmembrane glycoproteins may contribute to membrane lesions and associated muscle fiber degeneration and necrosis.