Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation

• Главные авторы: Yixia Zhang (Автор), Xinru Cheng (Автор), Chenghan Luo (Автор), Mengyuan Lei (Автор), Fengxia Mao (Автор), Zanyang Shi (Автор), Wenjun Cao (Автор), Jingdi Zhang (Автор), Qian Zhang (Автор)
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• Опубликовано: Frontiers Media S.A., 2020-04-01T00:00:00Z.
• Предметы: article
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Congenital myasthenic syndrome (CMS) is a neuromuscular transmission disorder caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene mutation is characterized by episodic apnoea. To date, 52 cases of CMS caused by CHAT gene mutations h...