Figure 2 Vastus lateralis biopsy of P2 (A) Vastus lateralis muscle cryostat section hematoxylin and eosin (H&E) staining shows basophilic subsarcolemmal.

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Figure 2 Vastus lateralis biopsy of P2 (A) Vastus lateralis muscle cryostat section hematoxylin and eosin (H&E) staining shows basophilic subsarcolemmal aggregate in one muscle fiber and one fiber with a small rimmed vacuole. Vastus lateralis biopsy of P2 (A) Vastus lateralis muscle cryostat section hematoxylin and eosin (H&E) staining shows basophilic subsarcolemmal aggregate in one muscle fiber and one fiber with a small rimmed vacuole. H&E staining ×100. (B) Periodic acid–Schiff (PAS) staining ×100 reveals some otherwise pale fibers with prominent accumulates of PAS-positive polyglucosan material, evident also in (C) PAS semithin sections ×200. (D) Immunohistochemical staining for phosphosphofructokinase shows no reduction in sarcolemmal or cytoplasmic expression. However, abnormal cytoplasmic phosphofructo-1-kinase–positive aggregates are observed in some fibers. These accumulations are unlike normal glycogen positive for (E) p62, (F) ubiquitin, (G) valosin-containing protein, and (H) desmin immunohistochemistry and negative for (I) myotilin, findings consistent with polyglucosan aggregates. (J) In these fiber regions, rimmed vacuolar pathology with accumulation of light chain 3b–positive material is also seen (original magnification ×100 in panels E–J). Mari Auranen et al. Neurol Genet 2015;1:e7 © 2015 American Academy of Neurology