Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

Defects of the mitochondrial respiratory chain are associated with a diverse spectrum of clinical phenotypes, and may be caused by mutations in either the nuclear or the mitochondrial genome (mitochondrial DNA (mtDNA)). Isolated complex I deficiency is the most common enzyme defect in mitochondrial...

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Detalhes bibliográficos
Main Authors: Swalwell, Helen, Kirby, Denise M, Blakely, Emma L, Mitchell, Anna, Salemi, Renato, Sugiana, Canny, Compton, Alison G, Tucker, Elena J, Ke, Bi-Xia, Lamont, Phillipa J, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W, Thorburn, David R
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3137493/
https://ncbi.nlm.nih.gov/pubmed/21364701
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.18
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