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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Main Authors: Çoku, Jorida, Shanske, Sara, Mehrazin, Mahsa, Tanji, Kurenai, Naini, Ali, Emmanuele, Valentina, Patterson, Marc, Hirano, Michio, DiMauro, Salvatore
Format: Artigo
Sprog:Inglês
Udgivet: 2009
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Article
Online adgang: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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