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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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Zhang, Yixia, Cheng, Xinru, Luo, Chenghan, Lei, Mengyuan, Mao, Fengxia, Shi, Zanyang, Cao, Wenjun, Zhang, Jingdi, Zhang, Qian
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Pediatrics
Acesso em linha: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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