Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates.

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作者： Hai-Yang,Luo ^[1] ; Lu,Zhao ^[2] ; Cheng-Yuan,Mao ^[2] ; Zhi-Hua,Yang ^[2] ; Jing,Yang ^[2] ; Yan-Lin,Wang ^[2] ; Hui-Xia,Niu ^[2] ; Yu-Tao,Liu ^[2] ; Chang-He,Shi ^[3] ; Yu-Ming,Xu ^[4]

作者单位： Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she East Road, Zhengzhou 450000, Henan, China; Institute of Clinical Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China. ^[1] Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she East Road, Zhengzhou 450000, Henan, China. ^[2] Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she East Road, Zhengzhou 450000, Henan, China. Electronic address: shichanghe@gmail.com. ^[3] Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she East Road, Zhengzhou 450000, Henan, China; Institute of Clinical Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China. Electronic address: xuyuming@zzu.edu.cn. ^[4]

关键词 AChR GFPT1 Limb-girdle myasthenia Tubular aggregates