第60回日本小児神経学会学術集会

講演情報

English Session

[E7] English Session 7

2018年6月2日(土) 10:00 〜 11:00 第5会場 (3F 302)

Chair: Hirofumi Komaki(Department of Clinical Research Promotion, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan), Tatsuya Fujii(Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan)

[E-040] Autosomal dominant spinal muscular atrophy due to a novel mutation in the motor adaptor BICD2

Mieko Yoshioka1, Naoya Morisada2, Daisaku Toyoshima3, Hisahide Nishio4, Kazumoto Iijima5, Yasuhiro Takeshima6, Tomoko Uehara7, Kenjiro Kosaki7 (Department of Pediatric Neurology, Kobe City Pediatric and General Rehabilitation Center for the Challenged, Kobe, Japan1, Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan2, Department of Neurology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan3, Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan4, Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan5, Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan6, Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan7)

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