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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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Main Authors: Lüdde, Mark (Author) , Ehlermann, Philipp (Author) , Weichenhan, Dieter (Author) , Will, Rainer (Author) , Zeller, Raphael (Author) , Rupp, Stefan (Author) , Müller, Andreas (Author) , Steen, Henning (Author) , Ivandic, Boris (Author) , Ulmer, Herbert E. (Author) , Kern, Michael A. (Author) , Katus, Hugo (Author) , Frey, Norbert (Author)
Format: Article (Journal)
Language:English
Published: 1 June 2010
In: Cardiovascular research
Year: 2010, Volume: 86, Issue: 3, Pages: 452-460
ISSN:1755-3245
DOI:10.1093/cvr/cvq009
Online Access: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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Author Notes: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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Summary: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).
Item Description:Online veröffentlicht: 18. Januar 2010
Gesehen am 19.04.2023
Physical Description:Online Resource
ISSN:1755-3245
DOI:10.1093/cvr/cvq009

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