Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations
European Journal of Medical Genetics(2021)
摘要
•Genotype-phenotype interactions are an unsolved problem in DCM, although associations are increasingly being established.•This is the first analysis of patients with RBM20 mutations conducted in our country.•We found that patients with RBM20 mutations had a profile with prominent arrhythmogenesis, a high penetrance of familial cardiomyopathy and sudden death.
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关键词
Dilated cardiomyopathy,Phenotype,Genotype,RBM20 gene,Arrhythmogenesis
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