Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

@article{Chiu2010MutationsIA,
  title={Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.},
  author={Christine L Chiu and Richard D Bagnall and Jodie Ingles and Laura Yeates and Marina L Kennerson and Jennifer A. Donald and Mika Jormakka and Joanne Maree Lind and Christopher Semsarian},
  journal={Journal of the American College of Cardiology},
  year={2010},
  volume={55 11},
  pages={1127-35}
}
OBJECTIVES This study describes a genome-wide linkage analysis of a large family with clinically heterogeneous hypertrophic cardiomyopathy (HCM). BACKGROUND Familial HCM is a disorder characterized by genetic heterogeneity. In as many as 50% of HCM cases, the genetic cause remains unknown, suggesting that other genes may be involved. METHODS Clinical evaluation, including clinical history, physical examination, electrocardiography, and 2-dimensional echocardiography, was performed, and… CONTINUE READING