Objective To determine whether the genetic prevalence of the CTG expansion in the DMPK
gene associated with myotonic dystrophy type 1 (DM1) in an unbiased cohort is higher than …

MicroRNAs (miRNAs) are small, non-coding RNA molecules that are mainly involved in
translational repression by binding to specific messenger RNAs. Recently, miRNAs have …

Muscular dystrophies encompass a wide and heterogeneous subset of hereditary
myopathies that manifest by the structural or functional abnormalities in the skeletal muscle …

Objective To investigate grey (GM) and white matter (WM) abnormalities and their effects on
cognitive and behavioral deficits in a large, phenotypically and genotypically well …

Objective: To determine the frequency and relative importance of the most life-affecting
symptoms in myotonic dystrophy type 2 (DM2) and to identify the factors that have the …

Over 30 hereditary disorders attributed to the expansion of microsatellite repeats have been
identified. Despite variant nucleotide content, number of consecutive repeats, and different …

Background Myotonic dystrophy type 1 (DM1) is an inherited trinucleotide repeat disorder in
which specific cancers have been implicated as part of the disease phenotype. This study …

This study aimed to verify whether brain abnormalities, previously described in patients with
myotonic dystrophy type 1 (DM1) by magnetic resonance imaging (MRI), progressed over …

Objective: Herein, we describe the disease burden and age-related changes of congenital-
onset myotonic dystrophy (CDM) in childhood. Methods: Children with CDM and age …

Background Myotonic dystrophy (DM) is a rare, inherited disorder with multi-systemic effects
that impact the skeletal muscles, eyes, heart, skin and gastrointestinal, endocrine …