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Washington University Experience | MUSCLE | Autophagic myopathy | 5D3 (Case 5) 909 - Copy

EM shows excess glycogen both free within the cytoplasm and within membrane bound spaces. Autophagosomes and small clusters of mildly abnormal mitochondria are also seen. (electron micrographs) ---- Not shown: NM workup: Acid phosphatase highlights prominent large positive staining granules and multiple smaller granules in many muscle fibers in the biopsy. In aggregate, all the findings are consistent with acid maltase deficiency myopathy. Biochemical tests showed decreased acid maltase enzymatic activity and increased accumulation of glycogen [146 (μg/mg protein) vs normal <64]. (electron micrographs)

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