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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Detalles Bibliográficos
Autores principales: Zhang, Yixia, Cheng, Xinru, Luo, Chenghan, Lei, Mengyuan, Mao, Fengxia, Shi, Zanyang, Cao, Wenjun, Zhang, Jingdi, Zhang, Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198756/
https://www.ncbi.nlm.nih.gov/pubmed/32411636
http://dx.doi.org/10.3389/fped.2020.00185

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198756/
https://www.ncbi.nlm.nih.gov/pubmed/32411636
http://dx.doi.org/10.3389/fped.2020.00185

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