The G263X MYBPC3 mutation is a common and low-penetrant mutation for hypertrophic cardiomyopathy in the region of Asturias (Northern Spain)

Int J Cardiol. 2013 Oct 9;168(4):4555-6. doi: 10.1016/j.ijcard.2013.06.085. Epub 2013 Jul 17.
No abstract available

Keywords: Hypertrophic cardiomyopathy; MYBPC3; Phenotype; Sarcomeric gene mutation.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Cardiomyopathy, Hypertrophic / genetics*
  • Carrier Proteins / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Penetrance*
  • Point Mutation
  • Spain
  • Young Adult

Substances

  • Carrier Proteins
  • myosin-binding protein C