A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.

@article{Jskelinen2014ANC,
  title={A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.},
  author={Pertti J{\"a}{\"a}skel{\"a}inen and Tiina Heli{\"o} and Katriina Aalto-Set{\"a}l{\"a} and Maija A Kaartinen and Erkki Ilveskoski and Liisa H{\"a}m{\"a}l{\"a}inen and John Henry Melin and Satu K{\"a}rkk{\"a}inen and Keijo J. Peuhkurinen and Markku S Nieminen and Markku Laakso and Johanna Kuusisto},
  journal={Annals of medicine},
  year={2014},
  volume={46 6},
  pages={424-9}
}
BACKGROUND In the nationwide FinHCM Study including 306 Finnish patients with hypertrophic cardiomyopathy (HCM), we have previously identified two founder mutations in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes, accounting for 18% of all cases. Objective. To screen additional mutations, previously identified in eastern Finnish cohorts with HCM, in the FinHCM Study population. PATIENTS AND METHODS Ten mutations in the beta-myosin heavy chain gene… CONTINUE READING