[O19] Oral Presentation
metabolic disease 2

[O-113] First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by the CLN6 mutations

^○Ryo Sato^1,2, Takehiko Inui², Wakaba Endo^1,2, Yukimune Okubo^1,2, Yusuke Takezawa^1,2, Mai Anzai², Hiroyuki Morita³, Hirotomo Saitsu⁴, Naomichi Matsumoto⁴, Kazuhiro Haginoya² (1.Department of Pediatrics Tohoku University School of Medicine, Sendai, Japan, 2.Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan, 3.Departmetn of Pediatrics, Fukushima Rehabilitation Center for Children, Koriyama, Japan, 4.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)