A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

The assembly of mitochondrial respiratory chain complex IV (cytochrome c oxidase) involves the coordinated action of several assembly chaperones. In Saccharomyces cerevisiae, at least 30 different assembly chaperones have been identified. To date, pathogenic mutations leading to a mitochondrial diso...

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Autors principals: Huigsloot, Merei, Nijtmans, Leo G., Szklarczyk, Radek, Baars, Marieke J.H., van den Brand, Mariël A.M., HendriksFranssen, Marthe G.M., van den Heuvel, Lambertus P., Smeitink, Jan A.M., Huynen, Martijn A., Rodenburg, Richard J.T.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3071910/
https://ncbi.nlm.nih.gov/pubmed/21457908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.03.002
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