Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

@article{Olson1998ActinMI,
  title={Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.},
  author={T. Olson and V. Michels and S. Thibodeau and Y. Tai and M. Keating},
  journal={Science},
  year={1998},
  volume={280 5364},
  pages={
          750-2
        }
}
To test the hypothesis that actin dysfunction leads to heart failure, patients with hereditary idiopathic dilated cardiomyopathy (IDC) were examined for mutations in the cardiac actin gene (ACTC). Missense mutations in ACTC that cosegregate with IDC were identified in two unrelated families. Both mutations affect universally conserved amino acids in domains of actin that attach to Z bands and intercalated discs. Coupled with previous data showing that dystrophin mutations also cause dilated… Expand
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