Article
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.
European journal of human genetics : EJHG - 1 Oct 2013
Roncarati Roberta, Viviani Anselmi Chiara, Krawitz Peter, Lattanzi Giovanna, von Kodolitsch Yskert, Perrot Andreas, di Pasquale Elisa, Papa Laura, Portararo Paola, Columbaro Marta, Forni Alberto, Faggian Giuseppe, Condorelli Gianluigi, Robinson Peter N
Abstract excerpt
Familial dilated cardiomyopathy (DCM) is a heterogeneous disease; although 30 disease genes have been discovered, they explain only no more than half of all cases; in addition, the causes of intra-familial variability in DCM have remained largely unknown. In this study, we exploited the use of whole-exome sequencing (WES) to investigate the causes of clinical variability in an extended family with 14 affected...
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