Author information:
(1)Friedrich-Baur-Institute, Department of Neurology, LMU Munich, Munich, 
Germany.
(2)Department of Neuromuscular Disorders, Institute of Neurology, University 
College London, London, UK.
(3)Department of Biochemistry, National Defense Medical Center, Neihu, Taipei, 
Taiwan.
(4)Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
(5)Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
(6)Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
(7)Molecular Medicine Unit, IRCCS Fondazione Stella Maris, Pisa, Italy.
(8)Department of Pediatrics, College of Medicine, Qassim University, Qassim, 
Saudi Arabia.
(9)Henan Key Laboratory of Child Brain Injury, Institute of Neuroscience and 
Third Affliated Hospital of Zhengzhou University, Zhengzhou, China.
(10)Center for Brain Repair and Rehabilitation, Institute of Neuroscience and 
Physiology, University of Gothenburg, Göteborg, Sweden.
(11)Department of Women's and Children's Health, Karolinska Institutet, 
Stockholm, Sweden.
(12)DNA Laboratory, Department of Paediatric Neurology, Second Faculty of 
Medicine, Charles University and University Hospital Motol, Prague, Czech 
Republic.
(13)Student Research Committee, School of Medicine, Shahid Beheshti University 
of Medical Sciences, Tehran, Iran.
(14)Barrow Neurological Institute, Phoenix Children's Hospital and University of 
Arizona College of Medicine, Phoenix, USA.
(15)Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, 
Austria.
(16)Division of Human Genetics, Medical University of Innsbruck, Innsbruck, 
Austria.
(17)Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical 
Center, Los Angeles, USA.
(18)Neurology Department, Massachusetts General Hospital, Boston, USA.
(19)Mitochondrial Medicine Frontier Program, Children's Hospital of 
Philadelphia, Philadelphia, USA.
(20)Institute of Human Genetics, Technische Universität Mänchen, Munich, 
Germany.
(21)Translational Neurosciences, Faculty of Medicine and Health Sciences, 
University of Antwerp, Antwerpen, Belgium.
(22)Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of 
Antwerp, Antwerpen, Belgium.
(23)Neuromuscular Reference Centre, Department of Neurology, Antwerp University 
Hospital, Antwerpen, Belgium.
(24)Center of Medical Genetics, University of Antwerp and Antwerp University 
Hospital, Antwerpen, Belgium.
(25)Genetics Division, Department of Pediatrics, King Abdullah International 
Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health 
Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs 
(MNG-HA), Riyadh, Saudi Arabia.
(26)Department of Neurology, Donders Institute for Brain, Cognition and 
Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.
(27)Polikliniek Neurologie Enschede, Medisch Spectrum Twente, Enschede, The 
Netherlands.
(28)Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.
(29)Department of Medicine, Nephrology, University Hospital Freiburg, Germany.
(30)Genetics Research Center, University of Social Welfare and Rehabilitation 
Sciences, Tehran, Iran.
(31)Department of Genetics, Washington University School of Medicine, St. Louis, 
USA.
(32)Department of Genetics, Yale University School of Medicine, New Haven, USA.
(33)Yale Center for Genome Analysis, Yale University, New Haven, USA.
(34)Department of Neurology and Psychiatry, Assiut University Hospital, Assiut, 
Egypt.
(35)Development and Behavioural Paediatrics Department, Institute of Child 
Health and The Children Hospital, Lahore, Pakistan.
(36)Oxford Regional Clinical Genetics Service, Northampton General Hospital, 
Northampton, UK.
(37)NIHR Oxford BRC, Wellcome Centre for Human Genetics, University of Oxford, 
Oxford, UK.
(38)The National Hospital for Neurology and Neurosurgery, London, UK.
(39)Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies 
Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.
(40)Institute of Medical Genetics and Applied Genomics, University of Tübingen, 
Tübingen, Germany.
(41)Rare Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
(42)Genetics and Genomics of Rare Diseases Unit, IRCCS Istituto Giannina 
Gaslini, Genoa, Italy.
(43)Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
(44)Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, 
Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
(45)Pediatric Neurology and Neuromuscular Diseases Unit, IRCCS Istituto Giannina 
Gaslini, Genoa, Italy.
(46)Department of Pediatrics, The First Affiliated Hospital of Henan University 
of Chinese Medicine, Zhengzhou, China.
(47)Department of Pediatric Neurology, Osaka Women's and Children's Hospital, 
Osaka, Japan.
(48)Department of Neurology, Graduate School of Medical Sciences, University of 
Yamanashi, Yamanashi, Japan.
(49)Department of Neurology, Graduate School of Medicine, The University of 
Tokyo, Tokyo, Japan.
(50)Institute of Medical Genomics, International University of Health and 
Welfare, Chiba, Japan.
(51)Department of Clinical Genetics, CHRU Nancy, UMR_S INSERM N-GERE 1256, 
Université de Lorraine - Faculté de Médecine, Nancy, France.
(52)Department of Neuroradiology, CHRU Nancy, Nancy, France.
(53)Department of Medical Genetics, Le Havre Hospital, Le Havre, France.
(54)Department of Pediatric Neurology, University Children's Hospital Tübingen, 
Tübingen, Germany.
(55)Roberts Individualized Medical Genetics Center, Division of Human Genetics, 
Children's Hospital of Philadelphia, Philadelphia, USA.
(56)Department of Pediatrics, Perelman School of Medicine, University of 
Pennsylvania, Philadelphia, USA.
(57)Department of Pediatrics, Naval Medical Center San Diego, San Diego, USA.
(58)Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los 
Angeles, USA.
(59)Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, USA.
(60)GeneDx, Gaithersburg, USA.
(61)Department of Pediatric Neurology, Akdeniz University Hospital, Antalya, 
Turkey.
(62)Department of Pediatric Neurology, Izmir Katip Celebi University, Izmir, 
Turkey.
(63)Center for Medical Genetics, Hanusch Hospital, Vienna, Austria.
(64)Medical School, Sigmund Freud Private University, Vienna, Austria.
(65)Hertie Institute for Clinical Brain Research (HIH), Center of Neurology, 
University of Tübingen, Tübingen, Germany.
(66)German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, 
Tübingen, Germany.
(67)Cologne Center for Genomics, Faculty of Medicine and Cologne University 
Hospital, University of Cologne, Cologne, Germany.
(68)Department of Paediatric Neurology, Liberec Hospital, Liberec, Czech 
Republic.
(69)Neuroscience Research Center, Faculty of Medicine, Golestan University of 
Medical Sciences, Gorgan, Iran.
(70)Dr. John T. Macdonald Foundation Department of Human Genetics, John P. 
Hussman Institute for Human Genomics, University of Miami Miller School of 
Medicine, Miami, USA.
(71)Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, 
Sweden.
(72)Department of Orthopaedics and Traumatology, Medical University of Vienna, 
Vienna, Austria.
(73)Department of Translational Genomics, Center for Genomic Medicine, King 
Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
(74)Department of Pediatrics, Genetic Unit, Armed Forces Hospital, Khamis 
Mushayt, Saudi Arabia.
(75)Hasti Genetic Counseling Center of Welfare Organization of Southern 
Khorasan, Birjand, Iran.
(76)Department of Human Genetics, Radboud University Medical Center, Nijmegen, 
The Netherlands.
(77)genetikum, Center for Human Genetics, Neu-Ulm, Germany.
(78)Institut für Pharmazeutische Wissenschaften, Albert-Ludwigs-Universität 
Freiburg, Freibug, Germany.
(79)Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, USA.
(80)Center for the Undiagnosed Patient, Cedars-Sinai Medical Center, Los 
Angeles, USA.