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Mitochondrial myopathies
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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Citations
Cited by
Goto, Y.-I., Nonaka, I., & Horai, S. (1990) · Nature · doi:10.1038/348651a0 · Cited by 2,070
Cellular and molecular basis of epilepsy
McNamara, J. (1994) · The Journal of Neuroscience · doi:10.1523/jneurosci.14-06-03413.1994 · Cited by 649
Russell, L. K., Mansfield, C. M., Lehman, J. J., Kovacs, A., Courtois, M., Saffitz, J. E., Medeiros, D. M., Valencik, M. L., McDonald, J. A., & Kelly, D. P. (2004) · Circulation Research · doi:10.1161/01.res.0000117088.36577.eb · Cited by 402
Progressive Myoclonus Epilepsies: Specific Causes and Diagnosis
Berkovic, S. F., Andermann, F., Carpenter, S., & Wolfe, L. S. (1986) · New England Journal of Medicine · doi:10.1056/nejm198607313150506 · Cited by 310
Holt, I. J., Harding, A. E., Cooper, J. M., Schapira, A. H. V., Toscano, A., Clark, J. B., & Morgan‐Hughes, J. A. (1989) · Annals of Neurology · doi:10.1002/ana.410260603 · Cited by 305
Metadata
- Authors
- DiMauro, S., Bonilla, E., Zeviani, M., Nakagawa, M., & DeVivo, D. C.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1985-06
- Volume
- 17
- Issue
- 6
- Pages
- 521-538
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W4252645571
- Cited by
- 688
- References
- 0
- FWCI
- 17.94
- Type
- journal article
- Language
- en
- Open access
- closed
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- DiMauro, S., Bonilla, E., Zeviani, M., Nakagawa, M., & DeVivo, D. C. (1985). Mitochondrial myopathies. Annals of Neurology. https://doi.org/10.1002/ana.410170602
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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