Fig. 4
Histopathology analyses of the vastus lateralis muscle biopsy from the proband. HE staining showed small vacuoles within the muscle fibers containing basophilic particals (a, ×400); NADH-TR (b, ×400) and COX staining (c, ×400) demonstrated intracytoplasmic vacuoles in some myofibers; PAS staining (d,×400) showed abnormal glycogen granules deposition in muscle fiber vacuoles; Immunohistochemistry demonstrated only a few intracytoplasmic vacuoles displayed the expression of LAMP2 protein (e, ×400), and high expression of dystrophin both on myofiber membrane and in vacuoles (f, ×400); Electron microscopy revealed many glycogen particles deposited in the cytoplasm (g, h)