Key result
Alternative splicing of exon 29 of CaV1.1 is markedly repressed in DM1 and DM2, and the extent of E29 skipping correlated with the severity of muscle weakness in DM1 patients.
DM-associated splicing defects alter Ca(V)1.1 function, which may exacerbate myopathy in myotonic dystrophy.
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Exon 29 skipping in CaV1.1 may worsen myopathy in DM; leaves open whether splicing correction improves outcomes in patients.
Tang et al. (2011) studied Myotonic dystrophy type 1 and type 2 (DM1 and DM2). Alternative splicing of exon 29 (E29) of CaV1.1 was evaluated on Extent of E29 skipping and correlation with severity of weakness. Alternative splicing of exon 29 of CaV1.1 is markedly repressed in DM1 and DM2, and the extent of E29 skipping correlated with the severity of muscle weakness in DM1 patients.