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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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Detalhes bibliográficos
Main Authors: Ling, Jiqiang, Roy, Hervé, Qin, Daoming, Rubio, Mary Anne T., Alfonzo, Juan D., Fredrick, Kurt, Ibba, Michael
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2007
Assuntos:
Acesso em linha: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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