Congenital myasthenia syndrome with a novel COLQ mutation responsive to ephedrine

Kazuhiro Higashida

Presentation information

Japanese Poster Session

[Pj-110] Myopathy (Miscellaneous4)

Sat. May 25, 2019 1:15 PM - 2:30 PM Poster Exhibition (Osaka International Convention Center 3F Event Hall)

Chair:Kinji Ohno(Neurogenetics, Nagoya University Graduate School of Medicine)

[Pj-110-2] Congenital myasthenia syndrome with a novel COLQ mutation responsive to ephedrine

Kazuhiro Higashida¹, Megumi Yamada¹, Masahiro Yasunishi¹, Yuiti Hayashi¹, Akio Kimura¹, Nobuyuki Shimozawa², Ichizo Nishino³, Takayoshi Shimohata¹ (1.Gifu University Hospital, 2.Life Science Research Center,Gifu University, 3.Department of Neuromuscular Research,National Center of Neurology and Psychiatry)

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