Mitochondrial myopathies

Authors

  • Dr Salvatore DiMauro MD,

    Corresponding author
    1. H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY 10032
    2. Division of Pediatric Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032
    • 4-420 College of Physicians and Surgeons, 630 West 168th St, New York, NY 10032
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  • Eduardo Bonilla MD,

    1. H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY 10032
    2. Division of Pediatric Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032
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  • Massimo Zeviani MD,

    1. H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY 10032
    2. Division of Pediatric Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032
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  • Masanori Nakagawa MD,

    1. H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY 10032
    2. Division of Pediatric Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032
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  • Darryl C. DeVivo MD

    1. H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY 10032
    2. Division of Pediatric Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032
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Abstract

Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (mitochondrial encephalomyopathies or cytopathies) and are usually defined by morphological abnormalities of muscle mitochondria. There are a few distinctive syndromes, such as the Kearns-Sayre syndrome; myoclonus epilepsy with ragged-red fibers; and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Biochemically, mitochondrial myopathies can be divided into defects of substrate utilization, oxidation-phosphorylation coupling, and the respiratory chain. Because mitochondria have their own DNA and their own translation and transcription apparatuses, mitochondrial myopathies can be due to defects of either a nuclear or mitochondrial genome and can be transmitted by mendelian or maternal inheritance.

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