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 …

Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …

Myotonic dystrophy type I (DM1) is the most common form of adult muscular dystrophy,
caused by expansion of a CTG triplet repeat in the 3′ untranslated region (3′ UTR) of the …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Expansions of repetitive DNA sequences cause numerous human neurological and
neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease …

Objective To develop RNA splicing biomarkers of disease severity and therapeutic response
in myotonic dystrophy type 1 (DM1) and type 2 (DM2). Methods In a discovery cohort, we …

We developed a diagnostic method for repeat expansion diseases using a long-read
sequencer to improve currently available, low throughput diagnostic methods. We employed …

The human fragile X mental retardation 1 (FMR1) gene contains a (CGG) n trinucleotide
repeat in its 5′ untranslated region (5′ UTR). Expansions of this repeat result in a number …