Presentation Information
[P25-03]A case of a SEMA6B gene variant presenting with the phenotype of progressive myoclonus ataxia
○Naoko Shiba1,2, Makoto Nishioka1, Masaru Nasuno1, Kyoko Takano3, Takaya Iida4, Kumiko Yanagi4, Tadashi Kaname4, Tetsuhiro Fukuyama1 (1.Department of Pediatrics, Shinshu University, Matsumoto, Japan, 2.Regenerative Science and Medicine, Shinshu University, Matsumoto, Japan, 3.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 4.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan)