Mitochondrial myopathies

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

Research output: Contribution to journalArticle

635 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)521-538
Number of pages18
JournalAnnals of Neurology
Volume17
Issue number6
DOIs
Publication statusPublished - 1985

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Mitochondrial Myopathies
Kearns-Sayre Syndrome
Mitochondrial Encephalomyopathies
Muscle Mitochondrion
Myoclonic Epilepsy
Lactic Acidosis
Mitochondrial Genome
Electron Transport
Mitochondria
Skeletal Muscle
Phosphorylation
DNA

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

DiMauro, S., Bonilla, E., Zeviani, M., Nakagawa, M., & DeVivo, D. C. (1985). Mitochondrial myopathies. Annals of Neurology, 17(6), 521-538. https://doi.org/10.1002/ana.410170602

Mitochondrial myopathies. / DiMauro, S.; Bonilla, E.; Zeviani, M.; Nakagawa, M.; DeVivo, D. C.

In: Annals of Neurology, Vol. 17, No. 6, 1985, p. 521-538.

Research output: Contribution to journalArticle

DiMauro, S, Bonilla, E, Zeviani, M, Nakagawa, M & DeVivo, DC 1985, 'Mitochondrial myopathies', Annals of Neurology, vol. 17, no. 6, pp. 521-538. https://doi.org/10.1002/ana.410170602
DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC. Mitochondrial myopathies. Annals of Neurology. 1985;17(6):521-538. https://doi.org/10.1002/ana.410170602
DiMauro, S. ; Bonilla, E. ; Zeviani, M. ; Nakagawa, M. ; DeVivo, D. C. / Mitochondrial myopathies. In: Annals of Neurology. 1985 ; Vol. 17, No. 6. pp. 521-538.
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