[P1] 遺伝・先天異常

[P1-26] A case presenting lower motor neuron dysfunction caused by SNAPC4 variants.

^○Sakurako Yamamoto¹, Yuri Uchiyama^2,3, Ikuko Shirai⁴, Akihiko Ishiyama¹, Ryuunosuke Nomura¹, Ko Hirata¹, Hirofumi Kashii¹, Ai Hoshino¹, Mitsumasa Fukuda¹, Naomichi Matsumoto², Satoko Kumada¹ (1.Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Japan, 2.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 3.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 4.Department of Neuropediatrics, Shimada Ryoiku Center Hachioji, Hachioji, Japan)