Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Michael ZechMatthias ElstnerKatja SteinbrückerCéline BrisNaig GueguenRené Günther FeichtingerMelanie T AchleitnerNeslihan DuzkaleMaximilien PérivierJohannes KochHarald EngelhardtPeter FreisingerMatias WagnerTheresa BrunetRiccardo BeruttiDmitrii SmirnovTharsini NavaratnarajahRichard J T RodenburgLynn S PaisChristina Austin-TseMelanie O'LearySylvia BoeschRobert JechSomayeh BakhtiariSheng Chih JinFriederike WilbertMichael C KruerSaskia B WortmannMatthias EckenweilerJohannes A MayrFelix DistelmaierRobert SteinfeldJuliane WinkelmannHolger ProkischPublished in: Annals of neurology (2022)
Our results establish evidence for a previously unrecognized role of ATPase nuclear-gene defects in phenotypes characterized by neurodevelopmental and neurodegenerative features. ANN NEUROL 2022;91:225-237.