Journal of Genetic Medicine

  • 제10권1호
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  • Pages.20-26
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  • 2013
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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Genetics of Mitochondrial Myopathies

  • Shin, Jin-Hong (Department of Neurology, Pusan National University Yangsan Hospital) ;
  • Kim, Dae-Seong (Department of Neurology, Pusan National University Yangsan Hospital)
  • 투고 : 2013.05.27
  • 심사 : 2013.06.22
  • 발행 : 2013.06.30
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⟨ 이전 논문 다음 논문 ⟩

초록

Mitochondrion is an intracellular organelle with its own genome. Its function in cellular metabolism is indispensable that mitochondrial dysfunction gives rise to multisystemic failure. The manifestation is most prominent with tissues of high energy demand such as muscle and nerve. Mitochondrial myopathies occur not only by mutations in mitochondrial genome, but also by defects in nuclear genes or secondarily by toxic insult on mitochondrial replication. Currently curative treatment modality does not exist and symptomatic treatment remains mainstay. Administration of L-arginine holds great promise according to the recent reports. Advances in mitochondrial RNA import might enable a new therapeutic strategy.

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