An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect

Mutations in the genes composing the mitochondrial translation apparatus are an important cause of a heterogeneous group of oxidative phosphorylation (OXPHOS) disorders. We studied the index case in a consanguineous family in which two children presented with severe encephalopathy, lactic acidosis,...

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Autores principales: Janer, Alexandre, Antonicka, Hana, Lalonde, Emilie, Nishimura, Tamiko, Sasarman, Florin, Brown, Garry K., Brown, Ruth M., Majewski, Jacek, Shoubridge, Eric A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2012
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484649/
https://ncbi.nlm.nih.gov/pubmed/23022098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.020
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