Presentation Information
[O-10-2]Features of missense variants located in the IDysF domain in dysferlin gene in Japan
Toshiaki Takahashi1, Rumiko Izumi2,3, Naoki Suzuki2,4, Chikako Yaginuma5, Naoko Shimakura2, Naoko Nakamura1,2, Yasuko Shimosegawa6, Tomoko Totsune1, Yoko Sugimura1, Takahiko Sasaki7, Masaru Yoshioka1, Toru Baba1, Hideki Oizumi1, Hiroyasu Tanaka1, Hitoshi Warita2, Tetsuya Niihori3, Takafumi Hasegawa1, Atsushi Takeda1, Yoko Aoki3, Masashi Aoki2 (1.Department of Neurology, National Hospital Organization Sendai Nishitaga Hospital, Japan, 2.Department of Neurology, Tohoku University School of Medicine, Japan, 3.Department of Medical Genetics, Tohoku University School of Medicine, Japan, 4.Department of Rehabilitation Medicine, Tohoku University School of Medicine, Japan, 5.Department of Clinical Laboratory, National Hospital Organization Sendai Nishitaga Hospital, Japan, 6.Department of Neurosurgery, National Hospital Organization Sendai Nishitaga Hospital, Japan, 7.Department of Internal Medicine, National Hospital Organization Sendai Nishitaga Hospital, Japan)