Duchenne muscular dystrophy (DMD), characterized by progressive muscle weakness and early death, is caused by diverse mutations in the dystrophin gene and subsequent perturbations in […]
Background: Providers are increasingly aware of neurobehavioral cognitive and learning challenges within dystrophinopathy patients, yet, even still, barriers remain within assessment of Duchenne and Becker […]
Dystrophin is a large cytoskeletal protein that plays a critical role in maintaining sarcolemmal integrity in muscle cells. Duchenne and Becker muscular dystrophies are caused […]
Replacing or editing disease-causing mutations holds great promise for treating many human diseases. Yet, delivering therapeutic genetic modifiers to specific cells in vivo has been […]
Background Many neuromuscular disorders involve loss and fat replacement of skeletal muscle. Volumetric MRI-based analysis of muscle volume and muscle fat has emerged as a […]
Limb girdle muscular dystrophy R7 (LGMDR7 or LGMD2G) is a rare autosomal recessive muscular dystrophy caused by mutations in the gene encoding the Z-disc protein, […]
Background: Limb Girdle Muscular Dystrophy Autosomal Recessive 2 (LGMDR2, previously LGMD2B) results from mutations in the dysferlin gene that can display a variety of clinical […]
Objective: To assess the long-term social and health impacts of the COVID-19 pandemic on people with muscular dystrophy (MD). Background: As the COVID-19 pandemic persisted, […]
SELENON-Related Myopathy (SELENON-RM) is a rare genetic disease caused by recessive mutations of the SELENON gene. It is characterized by spinal muscle weakness and the […]