^○Kayoko Saito¹, Tamaki Kato¹, John W Day², Nicolas Deconinck³, Elena S Mazzone⁴, Andres Nascimento⁵, Maryam Oskoui⁶, Carole Vuillerot⁷, Giovanni Baranello⁸, Laurent Servais⁹, Jessica Braid¹⁰, Marianne Gerber¹⁰, Carmen Martin¹⁰, Wai Yin Yeung¹⁰, Eugenio Mercuri⁴ (1.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 2.Department of Neurology, Stanford University, Palo Alto, CA, USA, 3.Neuromuscular Reference Center, UZ Gent, Ghent, Belgium, 4.Pediatric Neurology Institute, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome, Italy, 5.Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Deu, Fundacion Sant Joan de Deu, CIBERER - ISC III, Barcelona, Spain, 6.Departments of Pediatrics and Neurology Neurosurgery, McGill University, Montreal, Canada, 7.Department of Pediatric Physical Medicine and Rehabilitation, Hopital Mere Enfant, CHU-Lyon, Bron, France, 8.Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health University College London, London, UK, 9.MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, United Kingdom, 10.F. Hoffmann-La Roche Ltd., Basel, Switzerland)

^○Yasuhiro Takedhima¹, Baranello Giovanni², Riccardo Masson³, Maria Mazurkiewicz-Beldzinska⁴, Eugenio Mercuri⁵, Laurent Servais⁶, Hui Xiong⁷, Edmar Zanoteli⁸, Muna El-Khairi⁹, Marianne Gerber⁹, Laura Palfreeman⁹, Basil T Darras¹⁰ (1.Department of Pediatrics, Hyogo College of Medicine, Japan, 2.Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health University College London, London, UK, 3.Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, 4.Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland, 5.Pediatric Neurology Institute, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome, Italy, 6.MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, United Kingdom, 7.Department of Pediatrics, Peking University First Hospital, Beijing, China, 8.Department of Neurology, Faculdade de Medicina, Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil, 9.F. Hoffmann-La Roche Ltd., Basel, Switzerland, 10.Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA)

^○Tomokazu Kimizu, Naoko Yamazaki, Keisuke Oki, Ken Nakajima, Koji Tominaga, Yukiko Mogami, Keiko Yanagihara, Yasuhiro Suzuki (Department of Pediatric Neurology, Osaka Womens and Childrens Hospital, Osaka, Japan)

^○Kazuo Kubota^1,2,3, Takahiro Yamamoto^2,4, Miho Adachi¹, Hidenori Ohnishi^1,2,3 (1.Gifu University Graduate School of Medicine, Gifu, Japan, 2.Educational Support Center for Pediatric Home-Based Medical Care, Graduate School of Medicine, Gifu University, Gifu, Japan, 3.Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan, 4.Department of Pediatric Neurology, National Hospital Organization Nagara Medical Center, Gifu, Japan)

^○Tomoyo Yamashita¹, Norikatsu Hikita¹, Hiroki Fujimoto³, Taeka Hattori¹, Satoru Sakuma¹, Toshiyuki Seto^1,2, Haruo Shintaku¹, Takashi Hamazaki¹ (1.Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan, 2.Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan, 3.Nutrition Dietary Section, Osaka Metropolitan University Hospital, Osaka, Japan)

^○Minobu Shichiji¹, Keiko Ishigaki¹, Marika Sugimoto², Kousuke Yamauchi², Tomoya Kubota², Yuki Kihara¹, Kumiko Ishiguro¹, Takatoshi Sato¹, Hirofumi Komaki³, Harumasa Nakamura³, Masanori Takahashi² (1.Department of ediatrics, Tokyo Women's Medical University, Tokyo, Japan, 2.Department of Functional Diagnostic Science , Division of Health Sciences, Osaka University Graduate School of Medicine, Osaka, Japan, 3.Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan)