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Slowly Progressive Encephalopathy with Hearing Loss Due to a Mutation in the mtDNA tRNA(Leu(CUN)) Gene
Pathogenic mutations in the tRNA(Leu(UCN)) gene of mitochondrial DNA (mtDNA) have been invariably accompanied by skeletal myopathy with or without chronic progressive external ophthalmoplegia (CPEO). We report a young woman with a heteroplasmic m.12276G>A mutation in tRNA(Leu(UCN)), who had child...
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| Главные авторы: | , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2009
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3891822/ https://ncbi.nlm.nih.gov/pubmed/20022607 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2009.12.001 |
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