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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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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
National Academy of Sciences
2007
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| Matèries: | |
| Accés en línia: | 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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