LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Mitochondrial Complex IV [cytochrome c oxidase (COX)] deficiency is one of the most common respiratory chain defects in humans. The clinical phenotypes associated with COX deficiency include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characterized by bilateral hig...

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Detalhes bibliográficos
Publicado no:Brain
Main Authors: Oláhová, Monika, Hardy, Steven A., Hall, Julie, Yarham, John W., Haack, Tobias B., Wilson, William C., Alston, Charlotte L., He, Langping, Aznauryan, Erik, Brown, Ruth M., Brown, Garry K., Morris, Andrew A. M., Mundy, Helen, Broomfield, Alex, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Moeslinger, Dorothea, Koch, Johannes, Stettner, Georg M., Bonnen, Penelope E., Prokisch, Holger, Lightowlers, Robert N., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Taylor, Robert W.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4655343/
https://ncbi.nlm.nih.gov/pubmed/26510951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv291
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