[P12] 代謝・神経変性疾患

[P12-114] Rapidly progressive Leigh syndrome with compound heterozygous mutation in NDUFS7 gene.

^○Norihiko Mori¹, Kenichi Maeda¹, Takafumi Shimoda¹, Kozue Mori¹, Yuusuke Saitou¹, Yasuhiro Kimoto¹, Kei Murayama^2,3, Hiroshi Moritake¹ (1.Department of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan, 2.Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan, 3.Department of Metabolism, Chiba Childlen's Hospital, Chiba, Japan)