[E5] English Session 5
遺伝・遺伝子異常

[E-029] Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome

Yusuke Takezawa¹, Hiromi Fujie², Atsuo Kikuchi¹, Tetsuya Niihori³, Ryo Funayama⁴, Matsuyuki Shirota⁵, Keiko Nakayama⁶, Yoko Aoki³, Masayuki Sasaki⁶, Shigeo Kure¹ (1.Department of Pediatrics, Tohoku University School of Medicine, 2.Department of Pediatrics, Iwaki Kyoritsu General Hospital, Fukushima, Japan, 3.Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan, 4.Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, 5.Division of Interdisciplinary Medical Sciences, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, 6.Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan)