Article
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Journal of inherited metabolic disease - 1 Sept 2012
Koene S, Rodenburg R J, van der Knaap M S, Willemsen M A A P, Sperl W, Laugel V, Ostergaard E, Tarnopolsky M, Martin M A, Nesbitt V, Fletcher J, Edvardson S, Procaccio V, Slama A, van den Heuvel L P W J, Smeitink J A M
Abstract excerpt
Mitochondrial complex I is the largest multi-protein enzyme complex of the oxidative phosphorylation system. Seven subunits of this complex are encoded by the mitochondrial and the remainder by the nuclear genome. We review the natural disease course and signs and symptoms of 130 patients (four new cases and 126 from literature) with mutations in nuclear genes encoding structural complex I proteins or those...
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