Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
Thomas B. Smith(St Mary's Hospital), Raymond T. O’Keefe(University of Manchester), Kyle Thompson(Wellcome Centre for Mitochondrial Research), Mina Zamani(Shahid Chamran University of Ahvaz), Monika Oláhová(University of Helsinki), Saeid Sadeghian(Ahvaz Jundishapur University of Medical Sciences), Tal Gilboa(Hadassah Medical Center), Huw B. Thomas(University of Manchester), Nava Shaul Lotan(Hebrew University of Jerusalem), Hamid Galehdari(Shahid Chamran University of Ahvaz), William G. Newman(Manchester Metropolitan University), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Alessandro Rea(University of Manchester), Robert W. Taylor(Wellcome Centre for Mitochondrial Research), Kristin Herman(University of California Davis Medical Center), Wyatt W. Yue(Energy Biosciences Institute), Langping He(Wellcome Centre for Mitochondrial Research), Thomas J. McCorvie(University of Oxford)
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