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Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene
Heart Rhythm, 11/06/09
Van Tintelen JP et al. – In this largest series to date of individuals with a single head domain DES mutation, patients show a variable yet predominantly cardiologic phenotype characterized by conduction disease at an early age and RV involvement including right bundle branch block and/or RV tachycardias and arrhythmogenic RV cardiomyopathy phenocopies. A localized effect of desmin on the structure of the cardiac intercalated disks might contribute to disease pathogenesis.
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