Acute bilateral cerebral infarction in the presence of neuromyelitis optica spectrum disorder: A case report

por Wang, Zi-Yi, Wang, Meng, Guo, Jiao-Jiao, Gao, Yan-Lu, Yu, Xue-Fan
Publicado 2020

A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient

por Miao, Jing, Wei, Xiao-jing, Liu, Xue-mei, Kang, Zhi-xia, Gao, Yan-lu, Yu, Xue-fan
Publicado 2018

A novel homozygous exon2 deletion of TRIM32 gene in a Chinese patient with sarcotubular myopathy: A case report and literature review

por Wei, Xiao-Jing, Miao, Jing, Kang, Zhi-Xia, Gao, Yan-Lu, Wang, Zi-Yi, Yu, Xue-Fan
Publicado 2021