Mitochondrial myopathies

S. DiMauro, E. Bonilla, M. Zeviani, M. Nakagawa, D. C. DeVivo

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)521-538
Number of pages18
JournalAnnals of Neurology
Issue number6
Publication statusPublished - 1985

ASJC Scopus subject areas

  • Neuroscience(all)


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