Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.

@article{Jansweijer2017TruncatingTM,
  title={Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.},
  author={Joeri A. Jansweijer and Karin Nieuwhof and Francesco Russo and Edgar T Hoorntje and Jan J D H Jongbloed and Ronald H Lekanne Deprez and Alex Vincent Postma and Marieke Bronk and Ingrid A W van Rijsingen and Simone de Haij and Elena Biagini and Paul L. van Haelst and J Timon van Wijngaarden and Maarten P. van den Berg and Arthur A. M. Wilde and Marcel M. A. M. Mannens and Rudolf A de Boer and Karin Y. van Spaendonck-Zwarts and J Peter van Tintelen and Yigal M. Pinto},
  journal={European journal of heart failure},
  year={2017},
  volume={19 4},
  pages={512-521}
}
AIMS Truncating titin mutations (tTTN) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet been systematically studied. We studied whether tTTN variants are associated with a clinically distinguishable form of DCM. METHODS AND RESULTS We compared clinical data on DCM probands and relatives with a tTTN mutation (n = 45, n = 73), LMNA mutation (n = 28, n = 29), and probands who tested negative for both genes [idiopathic DCM (iDCM… CONTINUE READING

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