Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

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 investigated pos...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Orphanet J Rare Dis
Prif Awduron: Xi, Jianying, Yan, Chong, Liu, Wei-Wei, Qiao, Kai, Lin, Jie, Tian, Xia, Wu, Hui, Lu, Jiahong, Wong, Lee-Jun, Beeson, David, Zhao, Chongbo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2017
Pynciau:
Letter to the Editor
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5735900/
https://ncbi.nlm.nih.gov/pubmed/29258548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0732-z
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