Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea

Congenital myasthenic syndromes (CMSs) are a group of inherited disorders caused by genetic defects in neuromuscular junctions. Mutations in CHAT, encoding choline acetyltransferase, cause congenital myasthenic syndrome with episodic apnea (CMS-EA), a rare autosomal recessive disease characterized b...

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Detalles Bibliográficos
Autores principales: Liu, Zhimei, Zhang, Li, Shen, Danmin, Ding, Changhong, Yang, Xinying, Zhang, Weihua, Li, Jiuwei, Deng, Jie, Gong, Shuai, Liu, Jun, Qian, Suyun, Fang, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422987/
https://www.ncbi.nlm.nih.gov/pubmed/30914958
http://dx.doi.org/10.3389/fphar.2019.00259

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422987/
https://www.ncbi.nlm.nih.gov/pubmed/30914958
http://dx.doi.org/10.3389/fphar.2019.00259

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