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 …

Myotonic dystrophy is the most common type of muscular dystrophy in adults and is
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …

Cellular functions depend on numerous protein-coding and noncoding RNAs and the RNA-
binding proteins associated with them, which form ribonucleoprotein complexes (RNPs) …

Human genes contain a dense array of diverse cis-acting elements that make up a code
required for the expression of correctly spliced mRNAs. Alternative splicing generates a …

The genetic basis of myotonic dystrophy type 1 (DM1) is a CTG expansion in the 3′
untranslated region (UTR) of DMPK. The pathogenic mechanism involves an RNA gain of …

Myotonic dystrophy is an RNA gain-of-function disease caused by expanded CUG or CCUG
repeats, which sequester the RNA binding protein MBNL1. Here we describe a newly …

DM (myotonic dystrophy) is a dominantly inherited genetic disorder that is the most common
cause of muscular dystrophy in adults affecting 1 in 8500 individuals worldwide. Different …

Discrete and punctate nuclear RNA foci are characteristic molecular hallmarks of
pathogenesis in myotonic dystrophy type 1 and type 2. Intranuclear RNA inclusions of …

Most neurodegenerative disorders are thought to result primarily from the accumulation of
misfolded proteins, which interfere with protein homeostasis in neurons. For a subset of …

Microsatellite expansions cause a number of dominantly-inherited neurological diseases.
Expansions in coding-regions cause protein gain-of-function effects, while non-coding …