Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients

by Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-ze Zheng, Liang-liang Qiu, Zhi-xian Ye, Hai-zhu Chen, Min-ting Lin, Ning Wang, Zhi-qiang Wang
Published 2023-11-01

A “Triple Trouble” Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy

by Xiao-Dan Lin, Jun-Jie He, Feng Lin, Hai-Zhu Chen, Liu-Qing Xu, Wei Hu, Nai-Qing Cai, Min-Ting Lin, Ning Wang, Zhi-Qiang Wang, Guo-Rong Xu
Published 2018-01-01

Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency

by Hai-Zhu Chen, Ming Jin, Nai-Qing Cai, Xiao-Dan Lin, Xin-Yi Liu, Liu-Qing Xu, Min-Ting Lin, Feng Lin, Ning Wang, Zhi-Qiang Wang, Guo-Rong Xu, Yi Cui
Published 2019-07-01

A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2

by Liang-Liang Qiu, Xiao-Dan Lin, Guo-Rong Xu, Li-Li Wang, Zhi-Xian Ye, Feng Lin, Hai-Zhu Chen, Min-Ting Lin, Nai-Qing Cai, Ming Jin, Liu-Qing Xu, Wei Hu, Ning Wang, Zhi-Qiang Wang, Li-Shao Guo
Published 2021-11-01

Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

by Miao Zhao, Hui-Zhen Su, Yi-Heng Zeng, Yuan Sun, Xin-Xin Guo, Yun-Lu Li, Chong Wang, Zhi-Yuan Zhao, Xue-Jing Huang, Kai-Jun Lin, Zi-Ling Ye, Bi-Wei Lin, Shunyan Hong, Jitan Zheng, Yao-Bin Liu, Xiang-Ping Yao, Dehao Yang, Ying-Qian Lu, Hai-Zhu Chen, Erwei Zuo, Guang Yang, Hong-Tao Wang, Chen-Wei Huang, Xiao-Hong Lin, Zhidong Cen, Lu-Lu Lai, Yan-Ke Zhang, Xi Li, Tianmin Lai, Jingjing Lin, Dan-Dan Zuo, Min-Ting Lin, Chia-Wei Liou, Qing-Xia Kong, Chuan-Zhu Yan, Zhi-Qi Xiong, Ning Wang, Wei Luo, Cui-Ping Zhao, Xuewen Cheng, Wan-Jin Chen
Published 2022-11-01