A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans

Circ Genom Precis Med. 2024 Feb;17(1):e004134. doi: 10.1161/CIRCGEN.123.004134. Epub 2024 Jan 23.
No abstract available

Keywords: cardiomyopathy, hypertrophic; fibrosis; haploinsufficiency; humans; sarcomeres.

MeSH terms

  • Cardiomyopathy, Hypertrophic* / genetics
  • Haploinsufficiency*
  • Humans
  • Myocardium

Substances

  • myosin-binding protein C