Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients

by Xiao-Yu Chen, Dan-Yu Song, Yan-Bin Fan, Dan-Dan Tan, Xing-Zhi Chang, Jiang-Xi Xiao, Tatsushi Toda, Hui Xiong, Peng Lyu.
Published 2021-06-01

Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency

by Cui-Jie Wei, Xing-Zhi Chang, Lin Ge, Xiao-Na Fu, Yan-Bin Fan, Jie-Yu Liu, Shuang Wang, Hai-Li Li, Yan-Ling Yang, Hui Xiong, Yuan-Yuan Ji
Published 2020-06-01