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Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

Stephan S Waldmüller, Jeanette J Erdmann, Priska P Binner, Götz G Gelbrich, Sabine S Pankuweit, Christian C Geier, Bernd B Timmermann, Janine J Haremza, Andreas A Perrot, Steffen S Scheer, Rolf R Wachter, Norbert N Schulze-Waltrup, Anastassia A Dermintzoglou, Jost J Schönberger, Wolfgang W Zeh, Beate B Jurmann, Turgut T Brodherr, Jan J Börgel, Martin M Farr, Hendrik H Milting, Wulf W Blankenfeldt, Richard R Reinhardt, Cemil C Özcelik, Karl-Josef KJ Osterziel, Markus M Loeffler, Bernhard B Maisch, Vera V Regitz-Zagrosek, Heribert H Schunkert, Thomas T Scheffold, and

Eur J Heart Fail 13(11):1185-92 (2011) PMID 21750094

Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) can both be due to mutations in the genes encoding β-myosin heavy chain (MYH7) or cardiac myosin-binding protein C (MYBPC3). The aim of the present study was to determine the prevalence and spectrum of mutations in both genes in German HCM and DCM patients and to establish novel genotype-to-phenotype correlations.

DOI: 10.1093/eurjhf/hfr074
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