Abstract Background Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by
mutations in the dystrophin gene. A recent systematic review and meta-analysis of global …

Abstract Background Duchenne Muscular Dystrophy (DMD) is a rapidly progressive, lethal
neuromuscular disorder, present from birth, which occurs almost exclusively in males. We …

Background A variety of mutations in the largest human gene, dystrophin, cause a spectrum
from mild to severe dystrophin-associated muscular dystrophies. Duchenne (DMD) and …

Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth
muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical …

Highlights•Distinct mechanisms for repeat expansion in mitotic and post-mitotic tissues of
DM patients.•Overview of the diagnostic methodologies for measuring repeat lengths in …

The production of force and power are inherent properties of skeletal muscle, and regulated
by contractile proteins within muscle fibers. However, skeletal muscle integrity and function …

Myotonic dystrophy, or dystrophia myotonica type 1 (DM1), is a multi-systemic disorder and
is the most common adult form of muscular dystrophy. It affects not only muscles but also …

The Drosophila heart, also referred to as the dorsal vessel, pumps the insect blood, the
hemolymph. The bilateral heart primordia develop from the most dorsally located …

Background In the UK, large-scale electronic primary care datasets can provide up-to-date,
accurate epidemiological information on rarer diseases, where specialist diagnoses from …

CRISPR/Cas9 is an attractive platform to potentially correct dominant genetic diseases by
gene editing with unprecedented precision. In the current proof-of-principle study, we …