Myotonic dystrophy is the most common type of muscular dystrophy in adults and is
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …

Myotonic dystrophies (dystrophia myotonica, or DM) are inherited disorders characterized by
myotonia and progressive muscle degeneration, which are variably associated with a …

Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest
inherited muscular dystrophy and has a profound effect on individuals who are diagnosed …

Myotonic dystrophy type 1 is caused by the expansion of a CTG repeat in the 3′ UTR of the
DMPK gene. A length exceeding 50 CTG triplets is pathogenic. Intermediate alleles with 35 …

CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of
severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct …

Objective To evaluate the role of genetic variation at the DMPK locus on symptomatic
diversity in 250 adult, ambulant patients with myotonic dystrophy type 1 (DM1) recruited to …

Myotonic dystrophy type 1 (DM1) is a CTG microsatellite expansion (CTGexp) disorder
caused by expression of CUGexp RNAs. These mutant RNAs alter the activities of RNA …

Cardiac dysfunction is the second leading cause of death in myotonic dystrophy type 1
(DM1), primarily because of arrhythmias and cardiac conduction defects. A screen of more …

Nearly 40–50% of infertility problems are estimated to be of female origin. Previous studies
dedicated to the analysis of metabolites in follicular fluid (FF) produced contrasting results …

The aim of this study was to investigate the endocrine function and its association to number
of CTG repeats in patients with myotonic dystrophy type 1 (DM1). Concentration of various …