Antisense oligonucleotides (ASOs) were first discovered to influence RNA processing and
modulate protein expression over two decades ago; however, progress translating these …

A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …

Antisense oligonucleotides (ASOs) hold promise for gene-specific knockdown in diseases
that involve RNA or protein gain-of-function effects. In the hereditary degenerative disease …

The precision and complexity of intron removal during pre-mRNA splicing still amazes even
26 years after the discovery that the coding information of metazoan genes is interrupted by …

Nearly 30 hereditary disorders in humans result from an increase in the number of copies of
simple repeats in genomic DNA. These DNA repeats seem to be predisposed to such …

Myotonic dystrophy (DM1) is an autosomal dominant neuromuscular disorder associated
with a (CTG) n expansion in the 3′‐untranslated region of the DM1 protein kinase (DMPK) …

In myotonic dystrophy (DM), expression of RNA containing expanded CUG or CCUG
repeats leads to misregulated alternative splicing of pre-mRNA. The repeat-bearing …

Abstract Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by a
CTG expansion in the 3′ untranslated region of the DMPK gene. A predominant …

Genomic expansions of simple tandem repeats can give rise to toxic RNAs that contain
expanded repeats. In myotonic dystrophy, the expression of expanded CUG repeats …

The phenotypes in myotonic dystrophy types 1 and 2 (DM1 and DM2) are similar,
suggesting a shared pathophysiologic mechanism. DM1 is caused by expansion of a CTG …