Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

Abstract Background Congenital myasthenic syndrome caused by mutations in AGRN, a gene encoding a protein with a crucial function at the neuromuscular junction, is a rare disorder. There are few studies in this area. We here present two cases with novel mutations of AGRN of which we further investig...

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Bibliographic Details
Main Authors: Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson, Chongbo Zhao
Format: Article
Language:English
Published: BMC 2017-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Congenital Myasthenic syndrome
Agrin
Distal myopathy
Neuromuscular junction
Salbutamol
Online Access:http://link.springer.com/article/10.1186/s13023-017-0732-z

Internet

http://link.springer.com/article/10.1186/s13023-017-0732-z

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