Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant

Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant

Idiopathic dilated cardiomyopathy (DCM) is a primary myocardial disorder characterized by ventricular chamber enlargement and systolic dysfunction. Twenty to fifty percent of idiopathic DCM cases are thought to have a genetic cause. Of more than 30 genes known to be associated with DCM, rare variant...

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Bibliographic Details
Main Authors: Quinn S. Wells, Natalie L. Ausborn, Birgit H. Funke, Jean P. Pfotenhauer, Joseph L. Fredi, Samantha Baxter, Thomas G. DiSalvo, Charles C. Hong
Format: Article
Language:English
Published: MDPI AG 2011-08-01
Series:Cardiogenetics
Subjects:
dilated cardiomyopathy, vinculin, myosin binding protein C, VCL, MYBPC.
Online Access:http://www.pagepressjournals.org/index.php/cardiogen/article/view/29

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