Article
Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.
Journal of molecular medicine (Berlin, Germany) - 1 Mar 2008
Geiger Stephanie K, Bär Harald, Ehlermann Philipp, Wälde Sarah, Rutschow Désirée, Zeller Raphael, Ivandic Boris T, Zentgraf Hanswalter, Katus Hugo A, Herrmann Harald, Weichenhan Dieter
Abstract excerpt
We have identified a family in which several members died of sudden cardiac death or suffer from dilated cardiomyopathy (DCM) and rhythm disturbances. Mutation screening revealed co-segregation of a novel nonsense mutation (pR321X) in the lamin A gene, LMNA, with the disease. Lamin A, and its smaller splice form lamin C are nuclear intermediate filament proteins forming a major part of the lamina, which is...
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