Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation
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...
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Frontiers Media S.A.,
2020-04-01T00:00:00Z.
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