Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ(10) deficiency

Coenzyme Q(10) (CoQ(10)) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ(10) synthesis are usually associated with the impaired function of CoQ(10)–dependent complexes I,...

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Publicado en:Mol Genet Metab Rep
Autores principales: Sondheimer, Neal, Hewson, Stacy, Cameron, Jessie M., Somers, Gino R., Broadbent, Jane Dunning, Ziosi, Marcello, Quinzii, Catarina Maria, Naini, Ali B.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2017
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5432661/
https://ncbi.nlm.nih.gov/pubmed/28540186
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2017.05.001
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