4004 ESC Guidelines label use of medication should be limited to situations where it is in
the patient's interest to do so, with regard to the quality, safety, and efficacy of care, and only …

Myotonic dystrophy is an inherited systemic disorder affecting skeletal muscle and the heart.
Genetic testing for myotonic dystrophy is diagnostic and identifies those at risk for cardiac …

Abstract Myotonic dystrophy type 1 (DM1), the most common adult muscular dystrophy, is an
autosomal dominant disorder caused by an expansion of a (CTG) n tract within the 3 …

Objective Congenital disorder of glycosylation (CDG) due to a defective phosphatidylinositol
glycan anchor biosynthesis class A protein (PIGA) is a severe X-linked developmental and …

Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy affecting adults and
children, is a multi-systemic disorder affecting skeletal, cardiac, and smooth muscles as well …

Muscle fibrosis represents the end stage consequence of different diseases, among which
muscular dystrophies, leading to severe impairment of muscle functions. Muscle fibrosis …

Objective Cardiac disease accounts for a large burden of premature mortality and morbidity
in patients with type 1 myotonic dystrophy (MD). However, little is known about structural …

Objective: To determine the frequency and extent of cardiac involvement in female carriers
of pathogenic variants in DMD, 53 women were examined through an observational, cross …

Neuromuscular diseases (NMDs) include a broad spectrum of disorders that affect motor
unit in every possible site, extending from the cell body of peripheral nerves to the muscle …

Recent years have seen steady progress in the identification of genetic muscle diseases as
well as efforts to develop treatment for these diseases. Consequently, sensitive and …