SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review

por Shi, Jiejing, Qu, Qianqian, Liu, Haiyan, Cui, Wenhao, Zhang, Yan, Lv, Haidong, Lu, Zuneng
Publicado 2019

Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy

por Shi, Jiejing, Qu, Qianqian, Liu, Haiyan, Zhang, Yan, Cui, Wenhao, Chen, Ping, Lv, Haidong
Publicado 2021

The Novel Compound Heterozygous Mutations in the AGL Gene in a Chinese Family With Adult Late-Onset Glycogen Storage Disease Type IIIa

por Qu, Qianqian, Qian, Qi, Shi, Jiejing, Liu, Haiyan, Zhang, Yan, Cui, Wenhao, Chen, Ping, Lv, Haidong
Publicado 2020