The Institute of Childhood Neurology, Almaty, Kazakhstan.
Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, Ontario, Canada.
Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, UK ; Molecular and Clinical Sciences Institute, St. George’s, University of London, UK.
Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.
Molecular Genetics Laboratory, Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.
Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.
Kuwait Medical Genetics Centre, Kuwait City, Kuwait.
Kuwait Medical Genetics Centre, Kuwait City, Kuwait.
Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco ; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco ; Genetic and Immuno-Cell Therapy Team, Mohammed First University, Oujda, Morocco.
Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Myelin Disorders Clinic, Department of Pediatric Neurology, Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Angers University, MitoLab Team, MitoVasc Unit, CNRS UMR6015, INSERM U1083, SFR ICAT, Angers, France ; Department of Neurology, University Hospital of Angers, France.
Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
GeneDx Inc., Gaithersburg, Maryland, USA.
Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Department of clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK ; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, UK.
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, UK.
GeneDx Inc., Gaithersburg, Maryland, USA.
Servicio de Pediatría, Enfermedades Metabólicas Hereditarias, Hospital Universitario Ramón y Cajal, Madrid, Spain.
Division of Pediatric Neurology, Department of Pediatrics, Western University, London, Ontario, Canada.
Division of Genetics and Metabolics, Department of Pediatrics, London Health Sciences, London, Ontario, Canada.
Department of Neuropaediatrics, Gui de Chauliac Hospital, Montpellier University Hospital, Institut des Neurosciences, INSERM U 1298, Montpellier, France.
Departments of Pediatrics University of Western Ontario, London, ON N6A5W9, Canada; Biochemistry, University of Western Ontario, London, Ontario, Canada.
Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran ; Neuroscience Research Center, Mashhad University of Medical Sciences, Iran.
Institute of Science and Technology Austria, Klosterneuburg, Austria.
Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK ; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, UK.
Oxford University Press, 2025. Vol. 7, no 1, article id fcae453
Correspondence to: Dr Reza Maroofian, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. r.maroofian@ucl.ac.uk
This study was funded by the Medical Research Council (MR/S01165X/1, MR/S005021/1, G0601943). The Medical Research Council (MR/S01165X/1, MR/S005021/1, MRC ICGNMD), Wellcome Trust 221951/Z/20/Z, Global Parkinson’s Genetics Program, Aligning Science Across Parkinson’s, The Michael J. Fox Foundation, The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust, Multiple System Atrophy Trust, Brain Research UK, Sparks Great Ormond Street Hospital Charity, Muscular Dystrophy, Muscular Dystrophy Association United States of America and King Baudouin Foundation. H.T. was supported by the European Union’s Seventh Framework Programme for research, technological development and demonstration under grant agreement no. 608473. MSAH is funded by the Science and Technology Development Fund Academy of Science Research and Technology Egypt (Grant number: 33492, Ethical approval number: 20066). RWT is funded by the Wellcome Centre for Mitochondrial Research (203105/Z/16/Z), the Mitochondrial Disease Patient Cohort (UK) (G0800674), the Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), the Medical Research Council (MR/W019027/1), the Lily Foundaton, Mito Foundation, the Pathological Society, LifeArc, the UK National Institute for Health Research Biomedical Research Centre for Ageing and Age-related disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust and the UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children. H.H. and R.K. are supported by Global Parkinson’s Genetic Program and The Michael J. Fox Foundation Grant ID: MJFF-022153