Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

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 …

Abstract Myotonic dystrophy types 1 (DM1) and 2 (DM2) are similar yet distinct autosomal‐
dominant disorders characterized by muscle weakness, myotonia, cataracts, and multiple …

A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …

Short tandem repeat (STR) or microsatellite, expansions underlie more than 50 hereditary
neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 …

Expansions of simple sequence repeats, or microsatellites, have been linked to∼ 30
neurological–neuromuscular diseases. While these expansions occur in coding and …

The genetic lesion in myotonic dystrophy does not eliminate an essential muscle protein.
Instead, it induces a defect of RNA processing that is potentially reversible. The nature of this …

Myotonic Dystrophies type 1 (DM1) and type 2 (DM2) are complex multisystem diseases
without disease-based therapies. These disorders are caused by the expansions of unstable …

Two multi-system disorders, Myotonic Dystrophies type 1 and type 2 (DM1 and DM2), are
complex neuromuscular diseases caused by an accumulation of expanded, non-coding …