Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome

Congenital myasthenic syndrome (CMS) is a group of genetic disorders of neuromuscular transmission that is characterized by muscle weakness. A mutation in the gene encoding agrin (AGRN) is a rare cause of CMS, and only a few families or isolated cases have been reported. We reported a pediatric prob...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Front Neurol
Egile Nagusiak: Wang, Aiping, Xiao, Yangyang, Huang, Peng, Liu, Lingjuan, Xiong, Jie, Li, Jian, Mao, Ding'an, Liu, Liqun
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Frontiers Media S.A. 2020
Gaiak:
Neurology
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7160337/
https://ncbi.nlm.nih.gov/pubmed/32328026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2020.00239
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