A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

Background DES mutations cause different cardiac and skeletal myopathies. Most of them are missense mutations. Methods Using a next‐generation sequencing cardiac 174 gene panel, we identified a novel heterozygous in‐frame indel mutation ( DES ‐c.493_520del28insGCGT, p.Q165_A174delinsAS) in a Caucasian patient with cardiomyopathy in combination with atrioventricular block and skeletal myopathy. This indel mutation is located in the coding region...