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^○齋藤 加代子¹, John W Day², Nicolas Deconinck³, Elena Mazzone⁴, Andres Nascimento⁵, Maryam Oskoui⁶, Carole Vuillerot⁷, Giovanni Baranello⁸, Laurent Servais⁹, Marianne Gerber¹⁰, Ksenija Gorni¹⁰, Heidemarie Kletzl¹⁰, Carmen Martin¹⁰, Renata S Sclalco¹⁰, Hannah Staunton¹⁰, Wai Yin Yeung¹⁰, Eugenio Mercuri⁴ (1.東京女子医科大学、遺伝子医療センターゲノム診療科、東京、日本, 2.Department of Neurology, Stanford University, Palo Alto, CA, USA, 3.Queen Fabiola Children’s University Hospital, ULB, Brussels, Belgium, 4.Paediatric Neurology and Nemo Center, Catholic University and Policlinico Gemelli, Rome, Italy, 5.Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, CIBERER - ISC III, Barcelona, Spain, 6.Departments of Pediatrics and Neurology Neurosurgery, McGill University, Montreal, Canada, 7.Service de Rééducation Pédiatrique Infantile L’Escale, Hôpital Femme Mère Enfant, CHU-Lyon, Université de Lyon, France, 8.The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, & Great Ormond Street Hospital Trust, London, UK, 9.MDUK Oxford Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford, UK, 10.F. Hoffmann-La Roche Ltd, Basel, Switzerland)