Article
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation.
Cardiovascular research - 1 Jun 2010
Luedde Mark, Ehlermann Philipp, Weichenhan Dieter, Will Rainer, Zeller Raphael, Rupp Stefan, Müller Andreas, Steen Henning, Ivandic Boris T, Ulmer Herbert E, Kern Michael, Katus Hugo A, Frey Norbert
Abstract excerpt
AIMS: 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). METHODS AND RESULTS:...
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