We enrolled a Chinese family where the affected individuals suffered from cardiomyopathy and sudden cardiac death. The proband was selected for whole-exome sequencing to identify the pathogenic mutations in this family.
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*This sample record contains additional controlled-access information that is avaiable from GSA-Human by requesting study HRA002969 in the GSA-Human system.
We identified a novel DES mutation (p.E434K) in a Chinese family with cardiomyopathy and SCD. Our study not only provided a new case for the study of the relationship between DES mutations and hereditary cardiomyopathy, but also broadened the spectrum of DES mutations.
