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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 25B2B (Case 25)_048 - Copy

Higher magnification of image #25B2A. (electron micrograph) ---- Comment: The patient has a mitochondrial disorder with multiple complex deficiencies consistent with the ETFDH gene mutations. Complex II, Complex II + III, Complex III and Complex IV activities are especially reduced. Citrate synthase level is elevated. Coenzyme Q10 level is normal. Complex I activity is normal. On Western blot Complex I is absent and Complexes II-V are present in normal levels. Increased lipid is found in smaller type I muscle fibers could suggest a lipid disorder or malnutrition.

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