Article
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.
Brain : a journal of neurology - 1 Jan 2011
Gerards Mike, van den Bosch Bianca J C, Danhauser Katharina, Serre Valérie, van Weeghel Michel, Wanders Ronald J A, Nicolaes Gerry A F, Sluiter Wim, Schoonderwoerd Kees, Scholte Hans R, Prokisch Holger, Rötig Agnès, de Coo Irenaeus F M, Smeets Hubert J M
Abstract excerpt
Mitochondrial complex I deficiency is the most common oxidative phosphorylation defect. Mutations have been detected in mitochondrial and nuclear genes, but the genetics of many patients remain unresolved and new genes are probably involved. In a consanguineous family, patients presented easy fatigability, exercise intolerance and lactic acidosis in blood from early childhood. In muscle, subsarcolemmal...
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