Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure.

@article{Kamisago2006SarcomerePG,
  title={Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure.},
  author={Mitsuhiro Kamisago and Joachim P. Schmitt and Dennis L. McNamara and Christine M. Seidman and Jonathan G Seidman},
  journal={Novartis Foundation symposium},
  year={2006},
  volume={274},
  pages={176-89; discussion 189-95, 272-6}
}
Inherited human cardiomyopathies often lead to heart failure. A common feature of these conditions is that affected individuals can express the disease causing mutations for many years without showing clinical signs of the disease. Previous studies have demonstrated that sarcomere protein gene mutations can cause either dilated cardiomyopathy or hypertrophic cardiomyopathy. Here we demonstrate that the Arg442His missense mutation in beta-cardiac myosin heavy chain (betaMHC) causes dilated… CONTINUE READING