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Mitochondrial myopathy Yu-ichi GOTO 1 1Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP Keyword: ミトコンドリア , ミトコンドリアDNA , エネルギー代謝 pp.244-251
Published Date 2000/4/10
DOI https://doi.org/10.11477/mf.1431901143
  • Abstract
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The knowledge on mitochondrial myopathy was enormously expanded by the advance of mitochondrial DNA research during the last decade. It also provided the information about the complicated genotype-phenotype relationship based on the distinct characteristics of mitochondrial DNA itself. These include multicopy, vulner-ability to the mutation and cytoplasmic inheritance, which correlate with heteroplasmy, tissue/cell specificity, accumulation of mutation and maternal inheritance, which are observed in the patients. The research has reached a new phase because of three reasons.


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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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