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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: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | 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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