In both affected siblings, an accumulation of amorphous material immunoreactive for desmin, dystrophin and vimentin was observed in the cytoplasm of the skeletal muscle cells. An uncle and the ...

It offers EXONDYS 51 injection to treat duchenne muscular dystrophy (duchenne) in patients with confirmed mutation of the dystrophin gene that is amenable to exon 51 skipping; VYONDYS 53 for the ...

The Shanghai-based firm will test the gene therapy candidate in patients between 4 and 9 years old with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a rare genetic disorder that is characterised by progressive muscle degeneration and ...

Muscular Dystrophy (MD) is a genetic condition causing progressive muscle weakness and complications in vital organs. Early ...

AURORA, Colo. (Dec. 31, 2024) – A groundbreaking study has shed light on the complex interactions between dystrophin, a protein critical to muscle stability, and its partner protein ...

In 1987, the muscle protein associated with this gene was named dystrophin. Duchenne muscular dystrophy occurs when that gene fails to make dystrophin. Becker muscular dystrophy occurs when a ...

If you have DMD, the gene that makes a protein called dystrophin is broken. This protein normally keeps muscles strong and protects them from injury. The condition is more common in boys because ...

Biophysical characterization of the dystrophin C-terminal domain: Dystrophin interacts differentially with dystrobrevin isoforms. Journal of Biological Chemistry , 2024; 300 (12): 108002 DOI: 10. ...

Wave received supportive initial feedback from FDA, who recognize the severity of HD and are receptive to and engaged with Wave regarding a potential pathway to accelerated approval. FDA is open to ...

Elevidys, developed by Sarepta Therapeutics, delivers a micro-dystrophin gene designed to compensate for the missing dystrophin-producing genes in patients with DMD. In the trial, "AAV gene ...