Article
A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle.
Chinese medical journal - 5 Oct 2017
Zhang Ying, Dai Yi, Han Jing-Na, Chen Zhao-Hui, Ling Li, Pu Chuan-Qiang, Cui Li-Ying, Huang Xu-Sheng
Abstract excerpt
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. However, CMS reports about this gene mutation were rare. Here, we report a novel homozygous missense mutation (c.5302G>C)...
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