The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene

EMBO Molecular Medicine

Volumn 7, Issue 5, 2015, Pages 670-687

  Luna Sánchez, Marta ^a,b   Díaz Casado, Elena ^a,b   Barca, Emanuele ^c   Tejada, Miguel Ángel ^a,b   Montilla García, Ángeles ^a,b   Cobos, Enrique Javier ^a,b   Escames, Germaine ^a,b   Acuña Castroviejo, Dario ^a,b   Quinzii, Catarina M ^c   López, Luis Carlos ^a,b  

^a UNIVERSITY OF GRANADA   (Spain)

^b UNIVERSITY OF GRANADA   (Spain)

^c Department of Medicine   (United States)

Author keywords

Coq9; CoQ multiprotein complex; Mitochondrial myopathy; Mouse model; Nonsense mediated mRNA decay

Indexed keywords

BETA RESORCYLIC ACID; CYTOCHROME C OXIDASE; MESSENGER RNA; SUCCINATE DEHYDROGENASE; UBIDECARENONE; UBIQUINOL CYTOCHROME C REDUCTASE; BETA-RESORCYLIC ACID; HYDROXYBENZOIC ACID DERIVATIVE; UBIQUINONE; UBIQUINONE 9;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA MODIFICATION; EMBRYO; ENCEPHALOMYOPATHY; ENZYME DEFICIENCY; FEMALE; GENE EXPRESSION; GENETIC DIFFERENCE; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; LOCOMOTION; MALE; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; MOUSE; MUSCLE STRENGTH; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; PRIORITY JOURNAL; SKELETAL MUSCLE; UBIDECARENONE DEFICIENCY; ANIMAL; ATAXIA; DEFICIENCY; DISEASE MODEL; GENETIC VARIATION; GENETICS; GENOTYPE; MAMMAL; MISSENSE MUTATION; MUSCLE WEAKNESS; PATHOLOGY; TRANSGENIC MOUSE;

ANIMALS; ATAXIA; DISEASE MODELS, ANIMAL; GENETIC VARIATION; GENOTYPE; HYDROXYBENZOATES; MAMMALS; MICE; MICE, TRANSGENIC; MITOCHONDRIAL DISEASES; MUSCLE WEAKNESS; MUTATION, MISSENSE; UBIQUINONE;

EID: 84928989367     PISSN: 17574676     EISSN: 17574684     Source Type: Journal    
DOI: 10.15252/emmm.201404632     Document Type: Article

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