Morphology

Accumulation of substrate (glycogen, fat) as detected by light and electron microscopy, the occurrence of ragged red fibres as well as of cytochrome c oxidase (COX) negative fibres as determined by histochemistry are indicating abnormal mitochondrial function.

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• Diagnosis

• Diagnostic work up

• Ergometry

• Apparative diagnostics

• Biopsy

• Biochemical investigations

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• Molecular genetics