Article
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Annals of neurology - 1 Feb 2022
Zech Michael, Kopajtich Robert, Steinbrücker Katja, Bris Céline, Gueguen Naig, Feichtinger René G, Achleitner Melanie T, Duzkale Neslihan, Périvier Maximilien, Koch Johannes, Engelhardt Harald, Freisinger Peter, Wagner Matias, Brunet Theresa, Berutti Riccardo, Smirnov Dmitrii, Navaratnarajah Tharsini, Rodenburg Richard J T, Pais Lynn S, Austin-Tse Christina, O'Leary Melanie, Boesch Sylvia, Jech Robert, Bakhtiari Somayeh, Jin Sheng Chih, Wilbert Friederike, Kruer Michael C, Wortmann Saskia B, Eckenweiler Matthias, Mayr Johannes A, Distelmaier Felix, Steinfeld Robert, Winkelmann Juliane, Prokisch Holger
Abstract excerpt
OBJECTIVE: ATP synthase (ATPase) is responsible for the majority of ATP production. Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare. We aimed at expanding the spectrum of ATPase-related diseases. METHODS: Whole-exome sequencing in cohorts with 2,962 patients diagnosed with mitochondrial disease and/or dystonia and international collaboration were used to identify...
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