Haploinsufficiency of COQ4 causes coenzyme Q(10) deficiency

BACKGROUND: COQ4 encodes a protein that organises the multienzyme complex for the synthesis of coenzyme Q(10) (CoQ(10)). A 3.9 Mb deletion of chromosome 9q34.13 was identified in a 3-year-old boy with mental retardation, encephalomyopathy and dysmorphic features. Because the deletion encompassed COQ...

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Main Authors: Salviati, Leonardo, Trevisson, Eva, Hernandez, Maria Angeles Rodriguez, Casarin, Alberto, Pertegato, Vanessa, Doimo, Mara, Cassina, Matteo, Agosto, Caterina, Desbats, Maria Andrea, Sartori, Geppo, Sacconi, Sabrina, Memo, Luigi, Zuffardi, Orsetta, Artuch, Rafael, Quinzii, Catarina, DiMauro, Salvatore, Hirano, Michio, Santos-Ocaña, Carlos, Navas, Plácido
Formato: Artigo
Idioma:Inglês
Publicado: 2012
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3983946/
https://ncbi.nlm.nih.gov/pubmed/22368301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100394
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