TY - JOUR AU - Luna-Sánchez, Marta AU - Díaz-Casado, Elena AU - Barca, Emanuele AU - Tejada, Miguel Ángel AU - Montilla-García, Ángeles AU - Cobos, Enrique Javier AU - Escames Rosa, Germaine AU - Acuña Castroviejo, Darío AU - Quinzii, Catarina M. AU - López, Luis Carlos PY - 2015 SN - 1757-4676 SN - 1757-4684 UR - http://hdl.handle.net/10481/36532 AB - Primary coenzyme Q10 (CoQ10) deficiency is due to mutations in genes involved in CoQ biosynthesis. The disease has been associated with five major phenotypes, but a genotype–phenotype correlation is unclear. Here, we compare two mouse models with a... LA - eng PB - Wiley-Blackwell KW - CoQ multiprotein complex KW - Coq9 KW - Mitochondrial myopathy KW - Mouse model KW - Nonsense-mediated mRNA decay KW - Genetics KW - Gene therapy KW - Metabolism TI - The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene DO - 10.15252/emmm.201404632 ER -