Background Duchenne muscular dystrophy (DMD) is a severe rare progressive inherited
neuromuscular disorder, leading to loss of ambulation (LOA) and premature mortality. The …

Many neuromuscular diseases are genetically inherited or caused by mutations in motor
function proteins. Two of the most prevalent neuromuscular diseases are Duchenne …

The familial hypercholesterolemias (FH) are a group of genetic defects resulting in severe
elevations of blood cholesterol levels and increased risk of premature coronary heart …

Duchenne muscular dystrophy (DMD), the most common muscular dystrophy, is a severe
muscle disorder, causing muscle weakness, loss of independence, and premature death …

Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD
reading frame, but nonsense mutations in the 5′ part of the gene induce utilization of an …

Mutations of the dystrophin DMD gene, essentially deletions of one or several exons, are the
cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker …

Myofibre necrosis is a central pathogenic process in muscular dystrophies (MD). As post-
lesional regeneration cannot fully compensate for chronic myofibre loss, interstitial tissue …

Gene editing technologies such as CRISPR/Cas9 have emerged as an attractive tool not
only for scientific research but also for the development of medicinal products. Their ability to …

Duchenne muscular dystrophy (DMD) is a fatal inherited genetic disorder that results in
progressive muscle weakness and ultimately loss of ambulation, respiratory failure and …

Sports genetics can take advantage of lessons learned from human disease genetics. By
righting past mistakes and increasing scientific rigor, we can magnify the breadth and depth …