Congenital myotonic dystrophy-an RNA-mediated disease across a developmental continuum.

Publication Type:

Journal Article


Genes & development, Volume 31, Issue 11, p.1067-1068 (2017)


Thomas and colleagues (pp. 1122-1133) demonstrate severe dysregulation of developmentally regulated alternative splicing and polyadenylation in congenital myotonic dystrophy (CDM). In doing so, they also highlight the importance of these post-transcriptional processes during normal fetal muscle development. Finally, they generate and characterize a mouse model of CDM that lacks all three Muscleblind-like proteins.