Dmd - biomarkers

Duchenne muscular dystrophy (DMD) is a lethal, X-linked recessive neuromuscular disorder, characterized by progressive muscle degeneration and premature death. DMD is caused by mutations in the DMD gene, leading to a severe reduction or absence of the protein dystrophin. Multiple therapeutic strategies, including gene therapy, aim to restore a functional dystrophin (mini-dystrophin) protein to muscle cells. The ability to accurately quantify dystrophin/mini-dystrophin is essential in determining the level of gene transduction.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: V. Farrokhi, J. Walsh, J. Palandra, J. Brodfuehrer, T. Caiazzo, J. Owens, M. Binks, S. Neelakantan, F. Yong, H. Neubert Source Type: research