Figure 1Histochemical and histological findings in the muscle of patients with Leigh syndrome associated with c. 841delCT SURF1 gene mutation. A. Total diffuse cytochrome c oxidase (COX) deficit. B. Reference positive COX reaction (patient with encephalopathy of unknown cause examined in the same batch). C. Moderate lipid increase in muscle fibres. D. Variability of muscle fibre diameter.
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