Associated Papers
Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.
Alcázar-Fabra M et al.
Molecular Genetics and Metabolism Reports, 2025
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L et al.
Journal of Medical Genetics, 2022
Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C et al.
International Journal of Molecular Sciences, 2021
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.
Sondheimer N et al.
Molecular Genetics and Metabolism Reports, 2017
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