RBM20 VARIANTS RELATED CARDIOMYOPATHY: AN ITALIAN CASE SERIES
Anno:
2023
Background: RNA-binding motif protein 20 (RBM20) regulates post-transcriptional splicing, particularly in sarcomeric, but also in other cardiac genes crucial for homeostasis. RBM20 variants are a rare cause of cardiomyopathy (CMP), but genotype-phenotype correlation is still elusive, starting from the type of CMP (dilated, non-compacted, hypertrophic, and even restrictive phenotypes…