The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

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...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2947428/
https://ncbi.nlm.nih.gov/pubmed/20819849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awq232
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