[E7] English Session 7
Muscular disease

[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)