Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation

• Main Authors: Yixia Zhang (Author), Xinru Cheng (Author), Chenghan Luo (Author), Mengyuan Lei (Author), Fengxia Mao (Author), Zanyang Shi (Author), Wenjun Cao (Author), Jingdi Zhang (Author), Qian Zhang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...