Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

We investigated a family in which the index subject presented with severe congenital lactic acidosis and dysmorphic features associated with a cytochrome c oxidase (COX)-assembly defect and a specific decrease in the synthesis of COX I, the subunit that nucleates COX assembly. Using a combination of...

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Detalhes bibliográficos
Main Authors: Weraarpachai, Woranontee, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Auré, Karine, Rötig, Agnès, Lombès, Anne, Shoubridge, Eric A.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3257963/
https://ncbi.nlm.nih.gov/pubmed/22243966
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.027
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