Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series

• Main Authors: Aysylu Murtazina (Author), Artem Borovikov (Author), Andrey Marakhonov (Author), Artem Sharkov (Author), Inna Sharkova (Author), Alena Mirzoyan (Author), Sviatlana Kulikova (Author), Ralina Ganieva (Author), Viktoriia Zabnenkova (Author), Oksana Ryzhkova (Author), Sergey Nikitin (Author), Elena Dadali (Author), Sergey Kutsev (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the CHAT gene. While respiratory disorders and oculomotor findings are commonly reported in affected individuals, a subset of patients only present with muscle weakness and/or ptosis but not apneic crises. I...