[O13] 代謝・神経変性疾患 1

[O13-4] A case of Leigh encephalopathy with ECHS1 gene caused by pathogenic silent variant

^○Yoshiki Oitani¹, Yoshihiko Saito², Toshiyuki Yamamoto³, Hirotoshi Maeda⁴, Takako Matsumoto⁵, Akihiko Ishiyama⁶, Keiko Ichimoto⁷, Tomofusa Nagata¹, Haruka Tada¹, Keiko Suzuki¹, Kaoru Eto¹, Osamu Segawa⁸, Kei Murayama^7,9, Hisafumi Matsuoka¹ (1.Department of Pediatrics,Tokyo Women's Medical University Adachi Medical Center,Tokyo,Japan, 2.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan, 3.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan., 4.Medical Incorporated Foundation Harutaka Kai, 5.Department of Pediatrics, Tokyo Metropolitan Health and Hospitals Corporation Tobu Chiiki Hospital Tokyo Japan, 6.Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan, 7.Department of Metabolism, Chiba Children's Hospital, Chiba, Japan, 8.Department of Pediatric Surgery, Tokyo Women's Medical University Hospital, Tokyo, Japan., 9.Diagnostics and Therapeutics of Intractable Disease, Intractable Disease Research Center. Juntendo University Faculty of Medicine)