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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2012
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars