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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Detalhes bibliográficos
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 em: 2012
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Article
Acesso em linha: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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