A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle

Background: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. Howev...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Ying Zhang, Yi Dai, Jing-Na Han, Zhao-Hui Chen, Li Ling, Chuan-Qiang Pu, Li-Ying Cui, Xu-Sheng Huang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wolters Kluwer 2017-01-01
coleção:	Chinese Medical Journal
Assuntos:	AGRN; Congenital Myasthenic Syndrome; Gene Mutation
Acesso em linha:	http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=19;spage=2279;epage=2282;aulast=Zhang
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!