Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.

Abstract excerpt

In laminopathies cardiac involvement is common with dilated cardiomyopathy associated with atrio-ventricular block and malignant ventricular arrhythmia found in vast majority of patients. However, the specific disease course can be very different even among members of the same family which makes genotype-phenotype correlations difficult. Here we describe a 19-year-old patient with the LMNA R541C mutation and...

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