Figure 1 Tibialis anterior muscle biopsy of P1 (A) Increased fiber size variation, ring fibers, slight endomysial fibrosis, and prominent clear mainly.

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Presentation transcript:

Figure 1 Tibialis anterior muscle biopsy of P1 (A) Increased fiber size variation, ring fibers, slight endomysial fibrosis, and prominent clear mainly subsarcolemmal blebs. Tibialis anterior muscle biopsy of P1 (A) Increased fiber size variation, ring fibers, slight endomysial fibrosis, and prominent clear mainly subsarcolemmal blebs. Hematoxylin and eosin staining, ×200. (B) Enhancement of subsarcolemmal and partly intermyofibrillar periodic acid–Schiff (PAS) positivity. PAS staining ×200. (C) Histochemical staining for phosphosphofructokinase shows preserved staining and activity ×200. (D) A single cytochrome c oxidase (COX)-negative fiber was observed in COX-succinate dehydrogenase (SDH) staining located at the center. COX-SDH ×100. (E) Subsarcolemmal and some intermyofibrillar blebs in toluidine blue staining, plastic section ×400. (F) Verified accumulation of subsarcolemmal glycogen in electron microscopy ×3,950. Mari Auranen et al. Neurol Genet 2015;1:e7 © 2015 American Academy of Neurology