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
Acronym |
French Register of Dystrophinopathies |
| Principal investigator | Tanya Stojkovic |
| Sponsor | |
| Study status | In preparation |
| Recruitment status | In preparation |
| Population | Adult |
