Topic: DMD gene

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 an X-linked neuromuscular disorder characterized by progressive muscle degeneration, severe inflammation, and premature death of young adults. In addition to physical disability, DMD presents largely non-progressive neuropsychiatric abnormalities, impacting patient compliance with treatment and overall quality of life for both patients and their families. The disease arises from mutations in the DMD gene, which encodes structurally and functionally distinct dystrophins. Notably, individuals with DMD lack full-length isoforms present in crucial brain regions