Article
Respiratory chain complex I deficiency.
American journal of medical genetics - 1 Jan 2001
Triepels R H, Van Den Heuvel L P, Trijbels J M, Smeitink J A
Abstract excerpt
Oxidative phosphorylation disorders make a contribution of 1 per 10,000 live births in man, of which isolated complex I deficiency is frequently the cause. Complex I, or NADH:ubiquinone oxidoreductase, is the largest multi-protein enzyme complex of the mitochondrial electron transfer chain. In complex I deficiency, various clinical phenotypes have been recognized, often resulting in multi-system disorders with a...
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