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 …

In many repeat diseases, such as Huntington's disease (HD), ongoing repeat expansions in
affected tissues contribute to disease onset, progression and severity. Inducing contractions …

Background Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary
disease in terms of age of onset, clinical manifestations, and severity, challenging both …

Deciphering the contribution of genetic instability in somatic cells is critical to our
understanding of many human disorders. Myotonic dystrophy type 1 (DM1) is one such …

Myotonic dystrophy (DM) is a multi‐systemic disease that impacts cardiac and skeletal
muscle as well as the central nervous system (CNS). DM is unusual because it is an RNA …

Abstract Myotonic dystrophy type 1 (DM1) is a multisystem disorder, caused by expansion of
a CTG trinucleotide repeat in the 3′-untranslated region of the DMPK gene. The repeat …

At fifteen different genomic locations, the expansion of a CAG/CTG repeat causes a
neurodegenerative or neuromuscular disease, the most common being Huntington's …

Somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 is age-
dependent, tissue-specific and expansion-biased, contributing toward the tissue-specificity …

In myotonic dystrophy type 1 (DM1), somatic mosaicism of the (CTG) n repeat expansion is
age-dependent, tissue-specific and expansion-biased. These features contribute toward …