Session Details
[P2-05]Neuromuscular Disorders 2
Fri. Nov 20, 2026 3:30 PM - 4:30 PM JST
Fri. Nov 20, 2026 6:30 AM - 7:30 AM UTC
Fri. Nov 20, 2026 6:30 AM - 7:30 AM UTC
Exhibition Hall 1-A+2 (5) (Exhibition Hall 1-A+2, Exhibition Building, Sendai International Center)
[P2-05-01]Respiratory Complex I Deficiency Caused by a Novel Multi-exonic PUS1 Deletion
Junhui Yuan1, Yujiro Higuchi1, Masahiro Ando1, Akihiro Hashiguchi2, Yuji Okamoto3, Yu Hiramatsu1, Akiko Yoshimura1, Kento Kodama1, Hiroshi Takashima1 (1. Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, 2. Department of Neurology, National Hospital Organization Okinawa Hospital, Okinawa, Japan, 3. Department of Neurology, Itoshima Medical Association Hospital, Fukuoka, Japan)
[P2-05-02]Preserved mutant SOD1 transcript expression in familial ALS with splice-altering or protein-truncating variants
Chiharu Yoshida1, Hiroya Naruse1, So Okubo1, Kunihiro Ueda1, Takashi Matsukawa1, Jun Mitsui1,2, Yaeko Ichikawa3, Jun Goto4, Wataru Satake1, Tatsushi Toda5 (1. Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 2. Department of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 3. Department of Neurology, Kyorin University School of Medicine, Tokyo, Japan, 4. Department of Neurology, Fukushima Medical University Hospital, Fukushima, Japan, 5. National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan)
[P2-05-03]Investigation of c.3725G>A of dysferlin not to determine as a pathogenic variant
Toshiaki Takahashi1, Rumiko Izumi1,2, Naoki Suzuki2,3, Chikako Yaginuma4, Yasushi Oya5, Ko Sahashi6, Takafumi Hasegawa1, Tetsuya Niihori7, Yoko Aoki7, Masashi Aoki2 (1. Department of Neurology, National Hospital Organization Sendai Nishitaga Hospital, Sendai, Japan, 2. Department of Neurology, Tohoku University School of Medicine, Sendai, Japan, 3. Department of Rehabilitation Medicine, Tohoku University School of Medicine, Sendai, Japan, 4. Department of Clinical Laboratory, National Hospital Organization Sendai Nishitaga Hospital, Sendai, Japan, 5. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Japan, 6. Department of Neurology, Aichi Medical University School of Medicine, Nagakute, Japan, 7. Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan)
[P2-05-04]Novel XK variant identified in a patient with McLeod syndrome presenting initially with sleep apnea
Keiko Shimojima1,2, Ryusuke Kamada3, Megumi Hosoya3, Kenichi Todo3, Hirohito Kobayashi1, Toshiyuki Yamamoto2 (1. Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan, 2. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 3. Department of Neurology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan)
[P2-05-05]Epitranscriptomic landscapes of TDP-43 and FUS reveal convergent m6A-modified RNA networks in ALS
Ren Takemura1,2, Ryosuke Miyamoto3, Yuki Kuwano1,2, Daiki Arima3, Hiroyuki Morino1 (1. Department of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan, 2. Transdisciplinary Program for Medicine, Photonics, and Engineering, Tokushima University, Tokushima, Japan, 3. Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan)
