作者
Stephan Waldmüller, Jeanette Erdmann, Priska Binner, Götz Gelbrich, Sabine Pankuweit, Christian Geier, Bernd Timmermann, Janine Haremza, Andreas Perrot, Steffen Scheer, Rolf Wachter, Norbert Schulze‐Waltrup, Anastassia Dermintzoglou, Jost Schönberger, Wolfgang Zeh, Beate Jurmann, Turgut Brodherr, Jan Börgel, Martin Farr, Hendrik Milting, Wulf Blankenfeldt, Richard Reinhardt, Cemil Özcelik, Karl‐Josef Osterziel, Markus Loeffler, Bernhard Maisch, Vera Regitz‐Zagrosek, Heribert Schunkert, Thomas Scheffold, German Competence Network Heart Failure
发表日期
2011/11
来源
European journal of heart failure
卷号
13
期号
11
页码范围
1185-1192
简介
Aims
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.
Methods and results
Coding exons and intron flanks of the two genes MYH7 and MYBPC3 of 236 patients with HCM and 652 patients with DCM were sequenced by conventional and array‐based means. Clinical records were established following standard protocols. Mutations were detected in 41 and 11% of the patients with HCM and DCM, respectively. Differences were observed in the frequency of splice site and frame‐shift mutations in the gene MYBPC3, which occurred more frequently (P< 0.02, P< 0 …
学术搜索中的文章
S Waldmüller, J Erdmann, P Binner, G Gelbrich… - European journal of heart failure, 2011
S Waldmuller, J Erdmann, P Binner, G Gelbrich… - Eur J Heart Fail, 2011
