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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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| Hoofdauteurs: | , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Elsevier
2012
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| Onderwerpen: | |
| Online toegang: | 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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