Phenotypic Diversity Caused by the Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.

Background: Nonischemic cardiomyopathies are frequently caused by genetic mutations in about 100 different genes. The cardiomyopathy-associated gene encodes the intermediate filament protein desmin, which is important for the structural integrity of the cardiomyocytes.

Methods: Using a next-generation sequencing approach, we performed cascade screening of a previously identified heterozygous missense mutation (c.