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Definition of Mitochondrial disease
Medically reviewed by Min Clinic Staff | Updated: January 2026
Mitochondrial disease: A mutation in the mitochondrial chromosome that is responsible for a disease. Known mitochondrial diseases include the eye disease Leber hereditary optic atrophy; myoclonus epilepsy with ragged red fibers (MERRF); and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS syndrome).