A novel mutation in the tRNA(Ile) gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)

We describe a 62-year-old woman with chronic progressive external ophthalmoplegia (CPEO), multiple lipomas, diabetes mellitus, and a novel mitochondrial DNA (mtDNA) mutation at nucleotide 4302 (4302A>G) of the tRNA(Ile) gene (MTTI). This is the first mutation at position 44 in the variable loop (...

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Main Authors: Berardo, Andres, Çoku, Jorida, Kurt, Bulent, DiMauro, Salvatore, Hirano, Michio
Format: Artigo
Sprog:Inglês
Udgivet: 2010
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2841220/
https://ncbi.nlm.nih.gov/pubmed/20149659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2010.01.006
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