Article
The molecular basis of human complex I deficiency.
IUBMB life - 1 Sept 2011
Tucker Elena J, Compton Alison G, Calvo Sarah E, Thorburn David R
Abstract excerpt
Disorders of oxidative phosphorylation (OXPHOS) have a birth prevalence of ∼1/5,000 and are the most common inborn errors of metabolism. The most common OXPHOS disorder is complex I deficiency. Patients with complex I deficiency present with variable symptoms, such as muscle weakness, cardiomyopathy, developmental delay or regression, blindness, seizures, failure to thrive, liver dysfunction or ataxia. Molecular...
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