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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency
Complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a minority of complex I–deficient patients. We investig...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society for Clinical Investigation
2004
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC516258/ https://ncbi.nlm.nih.gov/pubmed/15372108 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200420683 |
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