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See Latest ArticlesMutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy
JACC - Journal of the American College of Cardiology, 08/27/09
Brauch KM et al. – The findings establish RBM20 as a DCM gene and reveal a mutation hotspot in the RS domain. RBM20 is preferentially expressed in the heart and encodes motifs prototypical of spliceosome proteins that regulate alternative pre–messenger RNA splicing, thus implicating a functionally distinct gene in human cardiomyopathy. RBM20 mutations are associated with young age at diagnosis, end–stage heart failure, and high mortality.
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