Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?

J Gen Physiol. 2023 Apr 3;155(4):e202313351. doi: 10.1085/jgp.202313351. Epub 2023 Mar 22.

Abstract

Reduced expression of MYBPC3 causes early dysfunction in human cell culture models prior to reduced cMyBP-C levels.

Publication types

  • Research Support, N.I.H., Extramural
  • Comment

MeSH terms

  • Cardiomyopathy, Hypertrophic* / genetics
  • Carrier Proteins* / genetics
  • Carrier Proteins* / metabolism
  • Haploinsufficiency
  • Humans
  • Mutation

Substances

  • Carrier Proteins
  • myosin-binding protein C