COQ9

Publications

Danhauser et al. Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. Eur J Hum Genet. 2016;24(3):450-454. PMID: 26081641.    

Luna‐Sánchez et al. The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene. EMBO mol med. 2015;7(5):670-687. PMID: 25802402.  

Olgac A et al. A rare case of primary coenzyme Q10 deficiency due to COQ9 mutation. J Pediatr Endocrinol Metab. 2020;33(1),165-170. PMID: 31821167.  

Wang S et al. Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes. Antioxidants (Basel). 2022;22;11(12):2308. PMID: 36552517.