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 language | English |
|---|---|
| Pages (from-to) | 521-538 |
| Number of pages | 18 |
| Journal | Annals of Neurology |
| Volume | 17 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - 1985 |
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ASJC Scopus subject areas
- Neuroscience(all)
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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 journal › Article
}
TY - JOUR
T1 - Mitochondrial myopathies
AU - DiMauro, S.
AU - Bonilla, E.
AU - Zeviani, M.
AU - Nakagawa, M.
AU - DeVivo, D. C.
PY - 1985
Y1 - 1985
N2 - 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.
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=0021798888&partnerID=8YFLogxK
U2 - 10.1002/ana.410170602
DO - 10.1002/ana.410170602
M3 - Article
VL - 17
SP - 521
EP - 538
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 6
ER -