Article
Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1.
Disease models & mechanisms - 1 Jan 2014
Todd Peter K, Ackall Feras Y, Hur Junguk, Sharma Kush, Paulson Henry L, Dowling James J
Abstract excerpt
Myotonic dystrophy type I (DM1) is a multi-system, autosomal dominant disorder caused by expansion of a CTG repeat sequence in the 3'UTR of the DMPK gene. The size of the repeat sequence correlates with age at onset and disease severity, with large repeats leading to congenital forms of DM1 associated with hypotonia and intellectual disability. In models of adult DM1, expanded CUG repeats lead to an RNA toxic...
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