Muscular dystrophies are a heterogeneous group of inherited disorders that share similar
clinical features and dystrophic changes on muscle biopsy. An improved understanding of …

Current molecular genomic approaches to human genetic disorders have led to an
explosion in the identification of the genes and their encoded proteins responsible for these …

Duchenne muscular dystrophy (DMD) is a severe, progressive, and ultimately fatal disease
of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy. The identification …

Highlights•Numerous pathophysiological features of DMD provide different therapeutic
avenues.•Pharmacolougical therapies target all muscles and are applicable to all DMD …

Background Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular
childhood disorder that causes progressive muscle weakness and degeneration and results …

Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy
affecting~ 1: 5000 live male births. Following the identification of pathogenic variations in the …

Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for
congenital or early-onset blindness. The most common disease-causing mutation (> 10%) is …

Acyl-CoA: glycerol-3-phosphate acyltransferase (GPAT) and acyl-CoA: 1-acyl-glycerol-3-
phosphate acyltransferase (AGPAT) are involved in the de novo synthesis of triacylglycerol …

Utrophin is an autosomal paralogue of dystrophin, a protein whose deficit causes Duchenne
and Becker muscular dystrophies (DMD/BMD). Utrophin is naturally overexpressed at the …

Slower, more oxidative muscle fibers are more resistant to the dystrophic pathology in
Duchenne muscular dystrophy (DMD) patients as well as in the preclinical mdx mouse …