与过度缩小心肌病相关的A331P动因变体增强了基底收缩活动,并引起休息肌肉功能障碍

Matthew H Doran1, Michael J Rynkiewicz1, Evan Despond2

  • 1Department of Pharmacology, Physiology & Biophysics, Boston University Chobanian & Avedisian School of Medicine, 72 E. Concord St, Boston, MA 02118, USA.

iScience
|February 21, 2025
PubMed
概括

通过改变actin-tropomyosin相互作用,A331P心脏动因突变导致肌肉过度收缩. 这项研究揭示了这种突变如何通过增加静止肌肉活动导致多变性心肌病.

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