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

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

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...

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Bibliographic Details
Main Authors: Aysylu Murtazina, Artem Borovikov, Andrey Marakhonov, Artem Sharkov, Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva, Viktoriia Zabnenkova, Oksana Ryzhkova, Sergey Nikitin, Elena Dadali, Sergey Kutsev
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Pediatrics
Subjects:
CHAT
congenital myasthenic syndrome
CMS
mild phenotype
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1280394/full

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https://www.frontiersin.org/articles/10.3389/fped.2024.1280394/full

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