^○齋藤 加代子¹, John W Day², Nicolas Deconinck³, Elena S Mazzone⁴, Andres Nascimento⁵, Maryam Oskoui⁶, Carole Vuillerot⁷, Jessica Braid⁸, Marianne Gerber⁹, Ksenija Gorni⁸, Carmen Martin⁸, Renata S Scalco⁹, Wai Yin Yeung⁸, Eugenio Mercuri⁴ (1.東京女子医科大学,ゲノム診療科, 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, Lyon, France, 8.Roche Products Ltd, Welwyn Garden City, UK, 9.F. Hoffmann-La Roche Ltd, Basel, Switzerland)

^○竹島 泰弘¹, Riccardo Masson², Maria Mazurkiewiczbeldzinska³, Kristy Rose⁴, Laurent Servais⁵, Hui Xiong⁶, Edmar Zanoteli⁷, Muna El-khairi⁸, Marianne Gerber⁹, Ksenija Gorni⁹, Heidemarie Kletzl⁹, Angela Dodman⁹, Eleni Gaki⁸, Basil T Darras¹⁰ (1.兵庫医科大学病院 小児科, 2.Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA, 3.Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy, 4.Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland, 5.Paediatric Gait Analysis Service of New South Wales, The Children’s Hospital at Westmead, Sydney, Australia, 6.I-Motion - Hopital Armand Trousseau, Paris, France, 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.Roche Products Ltd, Welwyn Garden City, UK, 10.F. Hoffmann-La Roche Ltd, Basel, Switzerland)

^○五十嵐 久佳¹, 小森 美華², John Krege³, Simin K. Baygani³, Maurice Vincent³, Paula Hauck³, Anne Macgregor⁴ (1.富士通クリニック、川崎、日本, 2.日本イーライリリー株式会社、神戸、日本, 3.Eli Lilly and Company, Indianapolis, USA, 4.Centre for Reproductive Medicine, St. Bartholomew’s Hospital, London, UK)

^○立岡 良久¹, 小森 美華², 丹治 由佳², 尾関 暁史², 竹島 多賀夫³ (1.医療法人立岡神経内科, 2.日本イーライリリー株式会社, 3.医療法人寿会 富永病院)

^○足立 智英¹, Manish Thapar², Herbert L Bonkovsky³, Susana Monroy⁴, Gayle Ross⁵, Encarna Guillen-Navarro⁶, Maria Domenica Cappellini⁷, Anna-Elisabeth Minder⁸, Shangbin Liu⁹, Marianne T Sweetser⁹, David J Kuter¹⁰ (1.東京都済生会中央病院 脳神経内科・総合診療内科, 2.Massachusetts General Hospital, Boston, MA, USA, 3.Thomas Jefferson University, Philadelphia, PA, USA, 4.Wake Forest University/North Carolina Baptist Medical Center, Winston-Salem, NC, USA, 5.Instituto Nacional de Pediatria, Mexico City, Mexico, 6.Royal Melbourne Hospital, Melbourne, Victoria, Australia, 7.Medical Genetics Section, Virgen de la Arrixaca University Hospital, IMIB-Arrixaca, Universidad de Murcia, Murcia, Spain, and CIBERER-ISCIII, Madrid, Spain, 8.University of Milan, Milan, Italy, 9.Division of Endocrinology, Diabetes and Porphyria, Stadtspital Waid und Triemli, Zurich, Switzerland, 10.Alnylam Pharmaceuticals, Cambridge, MA, USA)

^○村上 泰隆¹, 藤堂 謙一¹, 権 泰史¹, 岡崎 周平¹, 佐々木 勉¹, 内田 和孝², 吉村 紳一², 森本 剛³, 望月 秀樹¹ (1.大阪大学大学院医学系研究科　神経内科学, 2.兵庫医科大学病院　脳神経外科, 3.兵庫医科大学病院　臨床疫学)