Topic: Dp140

Duchenne muscular dystrophy (DMD) is a neuromuscular syndrome caused by mutations within the DMD gene. DMD is associated with intellectual disability, behavioral disturbances and neuropsychiatric disorders. The presence and severity of these disorders, particularly social behavior disorders, seem to vary according to the position of the mutations affecting one or more brain dystrophins. However, the genotype-phenotype relationships underlying these troubles are not defined. In this study, we explored the involvement of brain dystrophins in social disorders using several DMD mouse models. We us

Duchenne muscular dystrophy (DMD) is a severe neuromuscular disease caused by mutations in the dystrophin gene, resulting in muscle degeneration and a shortened life expectancy. DMD patients have a higher prevalence of intellectual disability, anxiety, and autism spectrum disorder than the general population. The presence of at least seven alternative promoters, two polyA addition sites and multiple alternative splicing results in several dystrophin isoforms with different expression patterns and roles. Mutations affecting only the full-length isoforms (Dp427) are linked to emotional behaviour