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A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
NADH:ubiquinone oxidoreductase (complex I) deficiency is a common cause of mitochondrial oxidative phosphorylation disease. It is associated with a wide range of clinical phenotypes in infants, including Leigh syndrome, cardiomyopathy, and encephalomyopathy. In at least half of patients, enzyme defi...
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| Auteurs principaux: | , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Society for Clinical Investigation
2005
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1236688/ https://ncbi.nlm.nih.gov/pubmed/16200211 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI26020 |
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