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

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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Bibliographic Details
Main Authors: Aiping Wang, Yangyang Xiao, Peng Huang, Lingjuan Liu, Jie Xiong, Jian Li, Ding'an Mao, Liqun Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-04-01
Series:Frontiers in Neurology
Subjects:
AGRN
agrin
congenital myasthenic syndrome
whole-exome sequencing
missense mutation
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00239/full

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https://www.frontiersin.org/article/10.3389/fneur.2020.00239/full

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