Presentation Information
[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)
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