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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Wells, Quinn S., Ausborn, Natalie L., Funke, Birgit H, Pfotenhauer, Jean P., Fredi, Joseph L., Baxter, Samantha, DiSalvo, Thomas D., Hong, Charles C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3779542/
https://ncbi.nlm.nih.gov/pubmed/24062880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/cardiogenetics.2011.e10
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