Recurrent and founder mutations in the Netherlands: the cardiac phenotype of founder mutations p.S13F and p.N342D

Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (). We describe new families carrying the p.S13F or p.N342D mutations, the cardiac phenotype of all carriers, and the founder effects. We collected the clinical details of all carriers of p.S13F or p.N342D. The founder effects were studied using genealogy and haplotype analysis. We identified three new index patients carrying the p.S13F mutation and two new families carrying the p.N342D mutation. In total, we summarised the clinical details of 39 p.S13... Mehr ...