Craig M Zaidman, Natalie L Goedeker, Amal A Aqul, Russell J Butterfield, Anne M Connolly, Ronald G Crystal, Kara E Godwin, Kan N Hor, Katherine D Mathews, Crystal M Proud, Elizabeth Kula Smyth, Aravindhan Veerapandiyan, Paul B Watkins, Jerry R Mendell
BACKGROUND: Duchenne muscular dystrophy (DMD) is a rare, degenerative, recessive X-linked neuromuscular disease. Mutations in the gene encoding dystrophin lead to the absence of functional dystrophin protein. Individuals living with DMD exhibit progressive muscle weakness resulting in loss of ambulation and limb function, respiratory insufficiency, and cardiomyopathy, with multiorgan involvement. Adeno-associated virus vector-mediated gene therapy designed to enable production of functional dystrophin protein is a new therapeutic strategy...
April 11, 2024: Journal of Neuromuscular Diseases