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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Hlavní autoři: Çoku, Jorida, Shanske, Sara, Mehrazin, Mahsa, Tanji, Kurenai, Naini, Ali, Emmanuele, Valentina, Patterson, Marc, Hirano, Michio, DiMauro, Salvatore
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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On-line přístup: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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