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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 20A6 (Case 20) muscle_063 - Copy

Within individual enlarged mitochondria a few cristae developed patchy osmiophilia. ---- No abnormality of SDH and Cytochrome oxidase is demonstrated with histochemistry. ---- Comment: This is a possible mitochondrial disorder. Complex I and Complex III activities are mildly reduced but ≥ 25% of normal. Other mitochondrial oxidative enzyme activity levels are normal. Final Neuromuscular Division report: Possible mitochondrial disorder with mild muscle fiber smallness for age and mildly reduced complex I and III activities. Ultrastructure showed large mitochondria with abnormal cristae and possible mitophagy, changes deemed compatible with a mitochondrial myopathy

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