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Mitochondrial Myopathy
Mitochondrial myopathy could well be classified with the above group of congenital myopathies with typical light microscopic findings because muscles stained with Gomori trichrome show red material (ragged red) within the muscle fibers. Electromyogram is normal. Macrosomia and Toni-Fanconi-Debre renal syndrome may be present. Some mitochondrial myopathies are due to cytochrome C oxidase deficiency (a specific mitochondrial defect). Lactic acidosis and pyruvate elevation are constant features.

 

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Hart, 1978 Would you like to see a muscle biopsy? Would you like to see a biopsy? Volpe, 1995a