Article
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Brain : a journal of neurology - 1 Oct 2010
Tuppen Helen A L, Hogan Vanessa E, He Langping, Blakely Emma L, Worgan Lisa, Al-Dosary Mazhor, Saretzki Gabriele, Alston Charlotte L, Morris Andrew A, Clarke Michael, Jones Simon, Devlin Anita M, Mansour Sahar, Chrzanowska-Lightowlers Zofia M A, Thorburn David R, McFarland Robert, Taylor Robert W
Abstract excerpt
Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome. For most patients the genetic cause of the biochemical defect remains unknown due to incomplete understanding of the complex I assembly process. Nonetheless, a plethora of pathogenic mutations have...
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