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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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Dettagli Bibliografici
Pubblicato in:Front Pediatr
Autori principali: Zhang, Yixia, Cheng, Xinru, Luo, Chenghan, Lei, Mengyuan, Mao, Fengxia, Shi, Zanyang, Cao, Wenjun, Zhang, Jingdi, Zhang, Qian
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7198756/
https://ncbi.nlm.nih.gov/pubmed/32411636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00185
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