Presentation Information
[O2-06]A case of a girl with X-linked myotubular myopathy due to a novel splice site variant heterozygous for the MTM1 gene
○Saki Takeda1, Tomoko Lee1, Saeka Yoshitake1, Yuki Terakita1, Yoko Yokoyama1, Eisuke Terasaki1, Miki Matsui1, Sachi Tokunaga1, Naoko Taniguchi1, Hideki Shimomura1, Makiko Toyoura2, Ichizo Nishino3, Yasuhiro Takeshima1 (1.Department of Pediatrics, Hyogo Medical University Hospital, Hyogo, Japan, 2.Hyogo Prefectural Central Rehabilitation Hospital, Hyogo, Japan, 3.National Center of Neurology and Psychiatry, Tokyo, Japan)