Brea-Calvo G et al. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.Am J Hum Genet. 2015;96(2):309-17. PMID: 25658047.
Chung WK et al. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet. 2015;52(9):627-35. PMID: 26185144.
Bosch AM et al. Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.Mol Genet Metab Rep. 2018;17:19-21. PMID: 30225196.
Mero S et al. New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.J Neurol. 2021;268(9):3381-3389. PMID: 33704555.
Laugwitz L et al. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.J Med Genet. 2022;59(9):878-887. PMID: 34656997.
Wei Q et al. Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype. CNS Neurosci Ther. 2024;30(4):e14529. PMID: 38013626.
COQ4