Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Lucia LaugwitzAnnette SeibtDiran HerebianSusana PeraltaImke KienzleRebecca BuchertRuth FalbDarja GauckAmelie MüllerMona GrimmelStefanie Beck-WoedelJan KernKarim DaliriPegah KatibehKatharina DanhauserSteffen LeizViola AlesiFabian BaertlingGessica VascoRobert SteinfeldMatias WagnerAhmet Okay ÇağlayanHakan GumusMargit BurmeisterErtan MayatepekDiego MartinelliParag Mohan TamhankarVasundhara TamhankarPascal JosetKatharina SteindlAnita RauchPenelope E BonnenTawfiq FroukhSamuel GroeschelIngeborg Krägeloh-MannTobias B HaackFelix DistelmaierPublished in: Journal of medical genetics (2021)
Our study describes the heterogeneous clinical presentation of COQ4 deficiency and identifies phenotypic subtypes. Cell-based studies support the pathogenic characteristics of COQ4 variants. Due to the insufficient clinical response to oral CoQ10 supplementation, alternative treatment strategies are warranted.