Dystrophinopathies affect the muscles allowing movement and the heart. They are due to abnormalities of dystrophin, a protein involved in the strength and resistance of muscle fibers, especially when muscles contract and relax. When dystrophin is impaired or absent, the muscle fiber is more fragile: it is damaged during contractions and eventually degenerates.
Dystrophin is encoded by the DMD gene which is located on the X chromosome.
Becker’s muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) are dystrophinopathies.
- French Register of Dystrophinopathies
French Register of Dystrophinopathies
|Principal investigator||Tanya Stojkovic|
|Study status||In preparation|
|Recruitment status||In preparation|