Zobrazeno 1 - 1
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pro vyhledávání: '"Chong, Yan"'
Autor:
Hui Wu, Jianying Xi, Kai Qiao, Wei Wei Liu, Xia Tian, Chongbo Zhao, David Beeson, Lee-Jun Wong, Jie Lin, Jiahong Lu, Chong Yan
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-7 (2017)
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 mutat