Ontology highlight
ABSTRACT:
SUBMITTER: Freyermuth F
PROVIDER: S-EPMC4831019 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Nature communications 20160411
Myotonic dystrophy (DM) is caused by the expression of mutant RNAs containing expanded CUG repeats that sequester muscleblind-like (MBNL) proteins, leading to alternative splicing changes. Cardiac alterations, characterized by conduction delays and arrhythmia, are the second most common cause of death in DM. Using RNA sequencing, here we identify novel splicing alterations in DM heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A. We fi ...[more]