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Impairment of mitochonrial tRNA(Ile) processing by a novel mutation associated with chronic progressive external ophthalmoplegia
We report a sporadic case of chronic progressive external ophthalmoplegia associated with ragged red fibers. The patient presented with enlarged mitochondria with deranged internal architecture and crystalline inclusions. Biochemical studies showed reduced activities of complex I, III and IV in skel...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2011
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3075320/ https://ncbi.nlm.nih.gov/pubmed/21292040 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mito.2011.01.005 |
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