Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

Author:

Zech Michael12ORCID,Kopajtich Robert12ORCID,Steinbrücker Katja3,Bris Céline45,Gueguen Naig45,Feichtinger René G.3ORCID,Achleitner Melanie T.3,Duzkale Neslihan6,Périvier Maximilien7,Koch Johannes3,Engelhardt Harald8,Freisinger Peter9,Wagner Matias12ORCID,Brunet Theresa12ORCID,Berutti Riccardo12,Smirnov Dmitrii12ORCID,Navaratnarajah Tharsini10,Rodenburg Richard J.T.11,Pais Lynn S12,Austin‐Tse Christina13,O'Leary Melanie14,Boesch Sylvia15,Jech Robert16,Bakhtiari Somayeh1718,Jin Sheng Chih1920,Wilbert Friederike21,Kruer Michael C1718,Wortmann Saskia B.322,Eckenweiler Matthias21,Mayr Johannes A.3,Distelmaier Felix10,Steinfeld Robert23,Winkelmann Juliane122425,Prokisch Holger12ORCID

Affiliation:

1. Technical University of Munich, School of Medicine, Institute of Human Genetics Munich Germany

2. Institute of Neurogenomics, Helmholtz Zentrum München Munich Germany

3. University Children's Hospital, Paracelsus Medical University (PMU) Salzburg Austria

4. Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers Angers France

5. Département de Biochimie et Génétique Centre Hospitalier Universitaire d'Angers Angers France

6. Department of Medical Genetic Diskapi Yildirim Beyazit Training and Research Hospital Ankara Turkey

7. Pediatric Neurology Department CHU Clocheville Tours France

8. Kinderkrankenhaus St. Marien gGmbH, Zentrum für Kinder‐ und Jugendmedizin Landshut Germany

9. Children's Hospital Kreiskliniken Reutlingen Germany

10. Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty Heinrich‐Heine‐University Düsseldorf Germany

11. Radboud Centre for Mitochondrial Medicine, Department of Paediatrics Radboud Institute for Molecular Life Sciences Radboud University Nijmegen Medical Centre Nijmegen Nijmegen The Netherlands

12. Program in Medical and Population Genetics, Broad Institute Cambridge MA

13. Harvard Medical School & Center for Genomic Medicine, Massachusetts General Hospital, Boston & Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge MA

14. Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard Cambridge MA

15. Department of Neurology Medical University of Innsbruck Innsbruck Austria

16. Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague Prague Czech Republic

17. Pediatric Movement Disorders Program, Division of Pediatric Neurology Barrow Neurological Institute, Phoenix Children's Hospital Phoenix AZ

18. Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics University of Arizona College of Medicine‐Phoenix Phoenix AZ

19. Department of Genetics Washington University School of Medicine St. Louis MO

20. Department of Pediatrics Washington University School of Medicine St Louis MO

21. Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine University of Freiburg Freiburg Germany

22. Radboud Center for Mitochondrial Medicine, Department of Pediatrics Amalia Children's Hospital, Radboud UMC Nijmegen The Netherlands

23. Department of Pediatric Neurology University Children's Hospital Zurich, University of Zurich Zurich Switzerland

24. Lehrstuhl für Neurogenetik, Technische Universität München Munich Germany

25. Munich Cluster for Systems Neurology (SyNergy) Munich Germany

Funder

Bundesministerium für Bildung und Forschung

ASCRS Research Foundation

Ministry of Education

Univerzita Karlova v Praze

Medizinische Universität Innsbruck

Helmholtz Zentrum München

Technische Universität München

Else Kröner-Fresenius-Stiftung

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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