Presentation Information
[O26-05]A case report of siblings with congenital muscular dystrophy caused by a novel POMT1 variant
○Kentaro Okada1, Tohru Okanishi1, Ikko Ohshiro Ikko2, Taro Okuda1, Yoshihiko Saito3, Ichizo Nishino3, Hiroyuki Awano4, Yoshihiro Maegaki1 (1.Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan, 2.Department of Pediatrics, Gifu Municipal Hospital, Gihu, Japan, 3.Department of National institute of neuroscience, National center of neurology and psychiatry, Tokyo, Japan, 4.Department of Medical Genetics, Tottori University, Yonago, Japan)