Article
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.
Clinical science (London, England : 1979) - 1 Jun 2015
Gorman Grainne S, Blakely Emma L, Hornig-Do Hue-Tran, Tuppen Helen A L, Greaves Laura C, He Langping, Baker Angela, Falkous Gavin, Newman Jane, Trenell Michael I, Lecky Bryan, Petty Richard K, Turnbull Doug M, McFarland Robert, Taylor Robert W
Abstract excerpt
Complex I (CI) is the largest of the five multi-subunit complexes constituting the human oxidative phosphorylation (OXPHOS) system. Seven of its catalytic core subunits are encoded by mitochondrial DNA (ND (NADH dehydrogenase)1-6, ND4L (NADH dehydrogenase subunit 4L)), with mutations in all seven having been reported in association with isolated CI deficiency. We investigated two unrelated adult patients...
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