Variant R94C in TNNT2-Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction
TNNT2编码的肌钙蛋白T中的R94C变异体通过损害细丝舒张功能导致心肌舒张功能障碍,从而易导致儿童限制性心肌病和猝死。
期刊:Journal of the American Heart Association
影响因子:5.3
doi:10.1161/JAHA.119.015111
Ezekian, Jordan E; Clippinger, Sarah R; Garcia, Jaquelin M; Yang, Qixin; Denfield, Susan; Jeewa, Aamir; Dreyer, William J; Zou, Wenxin; Fan, Yuxin; Allen, Hugh D; Kim, Jeffrey J; Greenberg, Michael J; Landstrom, Andrew P