The 60th Annual Meeting of the Japanese Society of Child Neurology

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English Session

Congenital abnormality

[E4] English Session 4
Congenital abnormality

Fri. Jun 1, 2018 10:50 AM - 11:50 AM Room 8 (1F 103)

Chair:Tomohiro Chiyonobu（ Department of Pediatrics, Kyoto Prefectural University of Medicine,Kyoto, Japan）, Tomonari Awaya（Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Kyoto, Japan, ranslational Research Department for Skin and Brain Diseases, Kyoto University Graduate School of Medicine, Kyoto, Japan）

[E-022] A case of ephedrine—responsive congenital myasthenia syndrome due to novel mutations in COLQ

Hiroyuki Wakamoto1, Mika Kawabe1, Yoshiaki Yano1, Satoko Miyatake2, Naomichi Matsumoto2, Kinji Ohno3 (Department of Pediatrics, Ehime Rehabilitation Center for Children, Toon, Japan1, Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan2, Division of Neurogenetics, Nagoya University Gratuate School of Medicine, Nagoya, Japan3)

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