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Partial tandem duplication of mtDNA–tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy
An 80-year-old woman (PI) has been suffering of late onset progressive weakness and wasting of lower-limb muscles, accompanied by high creatine kinase levels in blood. A muscle biopsy, performed at 63 years, showed myopathic features with partial deficiency of cytochrome c oxidase. A second biopsy t...
Tallennettuna:
| Päätekijät: | , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Pergamon Press
2012
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3334271/ https://ncbi.nlm.nih.gov/pubmed/22227277 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2011.07.009 |
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