Fig. 4

a-b-c-d-e-f-g-h: Muscle pathology: hematoxylin and eosin staining a shows small basophilic granular structures in the muscle fibers, which are acetylcholine esterase b positive autophagic vacuoles; immunohistochemistry using dystrophin c, β-sarcoglycan d, caveolin-3, and α -dystroglycan f antibodies demonstrates that the limiting membranes of the vacuoles have sarcolemmal features; immunohistochemical staining with anti-LAMP2 antibody g shows that LAMP-2 expression is present in anunaffected individuaL h while is absent in skeletal muscles of the patient