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Definition of Mitochondrial disease

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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).

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Reviewed on 12/12/2018

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