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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Detalles Bibliográficos
Autores principales: Zhang, Ying, Dai, Yi, Han, Jing-Na, Chen, Zhao-Hui, Ling, Li, Pu, Chuan-Qiang, Cui, Li-Ying, Huang, Xu-Sheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5634075/
https://www.ncbi.nlm.nih.gov/pubmed/28937031
http://dx.doi.org/10.4103/0366-6999.215332

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5634075/
https://www.ncbi.nlm.nih.gov/pubmed/28937031
http://dx.doi.org/10.4103/0366-6999.215332

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