NIH R01 · 2025
Molecular Mechanisms of Dystrophin Expression in Ameliorated Phenotypes
Abstract Duchenne muscular dystrophy (DMD) typically results from mutations in the DMD gene that disrupt the open reading frame, resulting in no dystrophin protein, whereas the milder Becker muscular dystrophy (BMD) typically results from mutations that allow expression of a partially functional dystrophin protein. This observation has led to the development of therapies intended to result in expression of internally-deleted, BMD-like dystrophin proteins. Despite the availability of four such commercial therapies for a subset of patients, and the transformative promise of microdystrophin gene therapies that are on the horizon, there are fundamental unanswered questions about the…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.