Article
Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.
International journal of molecular sciences - 10 Apr 2025
Sarvutiene Julija, Ramanavicius Arunas, Ramanavicius Simonas, Prentice Urte
Abstract excerpt
Abnormalities in X chromosomes, either numerical or structural, cause X-linked disorders, such as Duchenne muscular dystrophy (DMD). Recent molecular and cytogenetic techniques can help identify DMD gene mutations. The accurate diagnosis of Duchenne is crucial, directly impacting patient treatment management, genetics, and the establishment of effective prevention strategies. This review provides an overview of X...
Read the complete abstract on PubMedTopics
- Muscular Dystrophy, Duchenne
- Humans
- Dystrophin
- Mutation
