Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.

@article{Epstein1992DifferencesIC,
  title={Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.},
  author={Neal D. Epstein and Gabriel M. Cohn and F P Cyran and Lameh Fananapazir},
  journal={Circulation},
  year={1992},
  volume={86 2},
  pages={345-52}
}
BACKGROUND The disease gene for hypertrophic cardiomyopathy (HCM) has been identified as the beta-myosin heavy chain (beta-MHC) gene in some HCM families. We describe extensive clinical evaluations in two kindreds with two distinct point mutations in the beta-MHC gene. METHODS AND RESULTS We used single-strand confirmation polymorphism (SSCP) gel analysis of polymerase chain reaction-amplified products capturing each of the 40 beta-MHC gene exons to identify distinct missense mutations in two… CONTINUE READING

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 64 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 17 references

Molecular basis for familial hypertrophic cardiomyopathy : An aclp 3 cardiac myosin heavy chain hybrid gene

  • G Tanigawa, JA Jarcho, S Kass, SD Solomon, Vosberg H-P, A Seidman
  • Cell
  • 1990

Similar Papers

Loading similar papers…