How are mitochondrial myopathies diagnosed?
CK can be normal. EMG may show myopathic units.
Serum lactate to pyruvate ratio may be greater than 20. Muscle biopsy may show fibers that stain positive for succinate dehydrogenase (SDH) but negative for COX.
Respiratory chain enzymatic activity may also be measured on muscle tissue. Definitive diagnosis may require genetic testing.
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