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

Abstract Myotonic dystrophy type 1 (DM1) is a multisystemic and heterogeneous disorder
caused by the expansion of CTG repeats in the 3'UTR of the myotonic dystrophy protein …

Abstract Myotonic dystrophy type 1 (DM1) is caused by expanded CTG repeats (CTGexp) in
the dystrophia myotonica protein kinase (DMPK) gene, and the transcription products …

Expansion of a G4C2 repeat in the C9orf72 gene is associated with familial Amyotrophic
Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). To investigate the underlying …

Myotonic dystrophy type 1 (DM1) exhibits highly heterogeneous clinical manifestations
caused by an unstable CTG repeat expansion reaching up to 4000 CTG. The clinical …

Myotonic dystrophy (DM) is caused by expansions of C (C) TG repeats in the non-coding
regions of the DMPK and CNBP genes, and DM patients often suffer from sudden cardiac …

Background Cognitive and behavioural problems may be predominant in the clinical picture
of myotonic dystrophy (DM1) in childhood. This can lead to a diagnostic delay and thus …

Loss of gene function can be compensated by paralogs with redundant functions. An
example of such compensation are the paralogs of the Muscleblind-Like (MBNL) family of …

Myotonic dystrophy type 1 (DM1) is the most complex and variable trinucleotide repeat
disorder caused by an unstable CTG repeat expansion, reaching up to 4000 CTG in the …

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative
disorder caused by a limited expansion of CGG repeats in the FMR1 gene. Degeneration of …