Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
由于双等位基因 TANGO2 突变导致的复发性肌无力伴有横纹肌溶解症、代谢危机和心律失常
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.12.008
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, Levi B Watkin, Theodore Chiang, Magalie S Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K Eldomery, Zeynep Hande Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Ka