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

Genes Dev

Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.

Published: June 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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5538429PMC
http://dx.doi.org/10.1101/gad.302893.117DOI Listing

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