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

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...

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Bibliographic Details
Main Authors: Ying Zhang, Yi Dai, Jing-Na Han, Zhao-Hui Chen, Li Ling, Chuan-Qiang Pu, Li-Ying Cui, Xu-Sheng Huang
Format: Article
Language:English
Published: Wolters Kluwer 2017-01-01
Series:Chinese Medical Journal
Subjects:
AGRN; Congenital Myasthenic Syndrome; Gene Mutation
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=19;spage=2279;epage=2282;aulast=Zhang

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http://www.cmj.org/article.asp?issn=0366-6999;year=2017;volume=130;issue=19;spage=2279;epage=2282;aulast=Zhang

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