Genotype‐specific pathogenic effects in human dilated cardiomyopathy

@inproceedings{Bollen2017GenotypespecificPE,
  title={Genotype‐specific pathogenic effects in human dilated cardiomyopathy},
  author={Ilse A E Bollen and Maike Schuldt and Magdal{\'e}na Harakaľov{\'a} and Aryan Vink and Folkert W. Asselbergs and Jose R Pinto and Martina Kr{\"u}ger and Diederik W. D. Kuster and Jolanda van der Velden},
  booktitle={The Journal of physiology},
  year={2017}
}
KEY POINTS Mutations in genes encoding cardiac troponin I (TNNI3) and cardiac troponin T (TNNT2) caused altered troponin protein stoichiometry in patients with dilated cardiomyopathy. TNNI3p.98trunc resulted in haploinsufficiency, increased Ca2+ -sensitivity and reduced length-dependent activation. TNNT2p.K217del caused increased passive tension. A mutation in the gene encoding Lamin A/C (LMNAp.R331Q ) led to reduced maximal force development through secondary disease remodelling in patients… CONTINUE READING
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