扩展性心肌病相关的骨肌动蛋白 (ACTA1) 突变R256H破坏了动蛋白的结构和功能,并导致心肌细胞的低收缩性

Ankit Garg1,2,3, Silvia Jansen4, Rui Zhang2

  • 1Division of Cardiology, Department of Medicine Johns Hopkins University Baltimore MD USA.

概括

骨肌动蛋白 (ACTA1) 的特定突变甚至在低水平上也会导致扩张性心肌病 (DCM). 这种R256H突变通过影响活性丝来破坏心肌收缩性.

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