Presentation Information
[P2-01]A case of Danon disease complicated by Cabezas syndrome due to deletion of the LAMP2 gene and the adjacent CUL4B gene
○Konomi Shimoda1,2, Hiroshi Terashima1, Yu Kakimoto1, Takayuki Mori1, Yoshihiko Saito3, Shunpei Uchino1, Kei Murayama4, Ichizo Nishino3 (1.Department of Pediatrics, University of Tokyo,Tokyo,Japan, 2.Department of Pediatrics, National Rehabilitation Center for Children with D isabilities, Tokyo, Japan, 3.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4.Diagnostics and Therapeutics of Intractable Disease, Intractable Disease Res earch Center,Juntendo University Faculty of Medicine)