Article
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.
Orphanet journal of rare diseases - 19 Dec 2017
Xi Jianying, Yan Chong, Liu Wei-Wei, Qiao Kai, Lin Jie, Tian Xia, Wu Hui, Lu Jiahong, Wong Lee-Jun, Beeson David, Zhao Chongbo
Abstract excerpt
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 possible pathogenesis. RESULTS: Patient 1 had general limb weakness with fluctuation and deterioration in the afternoon...
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