Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation
Left ventricular non-compaction (LVNC) is caused by mutations in multiple genes. It is still unclear whether LVNC is the primary determinant of cardiomyopathy or rather a secondary phenomenon with intrinsic cardiomyocyte dysfunction being the actual cause of the disease. Here, we describe a family w...
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| Hauptverfasser: | , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
1 June 2010
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| In: |
Cardiovascular research
Year: 2010, Jahrgang: 86, Heft: 3, Pages: 452-460 |
| ISSN: | 1755-3245 |
| DOI: | 10.1093/cvr/cvq009 |
| Online-Zugang: | Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1093/cvr/cvq009 Verlag, lizenzpflichtig, Volltext: https://academic.oup.com/cardiovascres/article/86/3/452/317044 
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| Verfasserangaben: | Mark Luedde, Philipp Ehlermann, Dieter Weichenhan, Rainer Will, Raphael Zeller, Stefan Rupp, Andreas Müller, Henning Steen, Boris T. Ivandic, Herbert E. Ulmer, Michael Kern, Hugo A. Katus, and Norbert Frey |
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| 245 | 1 | 0 | |a Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation |c Mark Luedde, Philipp Ehlermann, Dieter Weichenhan, Rainer Will, Raphael Zeller, Stefan Rupp, Andreas Müller, Henning Steen, Boris T. Ivandic, Herbert E. Ulmer, Michael Kern, Hugo A. Katus, and Norbert Frey |
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| 520 | |a Left ventricular non-compaction (LVNC) is caused by mutations in multiple genes. It is still unclear whether LVNC is the primary determinant of cardiomyopathy or rather a secondary phenomenon with intrinsic cardiomyocyte dysfunction being the actual cause of the disease. Here, we describe a family with LVNC due to a novel missense mutation, pE96K, in the cardiac troponin T gene (TNNT2). | ||
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