[E5] English Session 5
genetic disorder

[E-031] A boy with myoclonus dystonia syndrome diagnosed by whole exome sequencing

^○Akihiko Miyauchi¹, Ayumi Matsumoto¹, Masako Nagashima¹, Yukifumi Monden¹, Noriko Oguro², Haruo Shintaku³, Yuri Uchiyama⁴, Mitsuko Nakashima⁴, Naomichi Matsumoto⁴, Hitoshi Osaka¹, Takanori Yamagata¹ (Department of Pediatrics, Jichi Medical University, Tochigi, Japan¹, Department of Pediatrics, Tochigi Rehabilitation Center, Tochigi, Japan², Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan³, Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan⁴)