Article
Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity.
Human molecular genetics - 1 Aug 2013
Cattin Marie-Elodie, Bertrand Anne T, Schlossarek Saskia, Le Bihan Marie-Catherine, Skov Jensen Søren, Neuber Christiane, Crocini Claudia, Maron Sophia, Lainé Jeanne, Mougenot Nathalie, Varnous Shaïda, Fromes Yves, Hansen Arne, Eschenhagen Thomas, Decostre Valérie, Carrier Lucie, Bonne Gisèle
Abstract excerpt
Dilated cardiomyopathy (DCM) associates left ventricular (LV) dilatation and systolic dysfunction and is a major cause of heart failure and cardiac transplantation. LMNA gene encodes lamins A/C, proteins of the nuclear envelope. LMNA mutations cause DCM with conduction and/or rhythm defects. The pathomechanisms linking mutations to DCM remain to be elucidated. We investigated the phenotype and associated...
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