Rabah Ben Yaou
Medical doctor (MD), Neuromyology
Titres
Medical doctor (MD), Neuromyology
Expertises
- Genetics of Neuromuscular diseases
- Myopathies with joint contractures with or without cardiac diseases, laminopathies and othe nuclear envelope related diseases, dystrophinopathies
- Myopathies without definite genetic diagnosis
- Databases, registries
Présentation
Highly trained in muscular diseases, my research interests are linked to the genetics of muscular diseases, more specifically those linked to the nuclear envelope such as laminopathies, to dystrophinopathies (Duchenne and Becker myopathies and dystrophinopathies in general), to deciphering genetic causes of unlabeled myopathies and the development and maintenance of databases and registries dedicated to these conditions.