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Updated: Jan 31, 2026

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在MYBPC3中发生过早终结的Codon突变会通过慢性激活无意中介衰变引起缩性心肌病

Timon Seeger1,2, Rajani Shrestha1,2, Chi Keung Lam1,2

  • 1Stanford Cardiovascular Institute (T.S., R.S., C.K.L., C.C., W.L.M., E.L., A.W., M.G, J.L., A.O., S.L., H.Y., M.M., M.W., E.A.A., I.K., J.C.W.), Stanford University School of Medicine, CA.

Circulation
|December 28, 2018
PubMed
概括

MYBPC3中的突变通过激活无意中介衰变导致心脏细胞中异常的处理导致过度缩小的心肌病 (HCM). 抑制这种途径使患者细胞的心脏功能正常化.

关键词:
心肌细胞缩性心肌病症

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