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Pathogenic mechanism of a human mitochondrial tRNA(Phe) mutation associated with myoclonic epilepsy with ragged red fibers syndrome

Human mitochondrial tRNA (hmt-tRNA) mutations are associated with a variety of diseases including mitochondrial myopathies, diabetes, encephalopathies, and deafness. Because the current understanding of the precise molecular mechanisms of these mutations is limited, there is no efficient method to t...

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Détails bibliographiques
Auteurs principaux: Ling, Jiqiang, Roy, Hervé, Qin, Daoming, Rubio, Mary Anne T., Alfonzo, Juan D., Fredrick, Kurt, Ibba, Michael
Format: Artigo
Langue:Inglês
Publié: National Academy of Sciences 2007
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2000536/
https://ncbi.nlm.nih.gov/pubmed/17878308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0704441104
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