Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
Journal: Genes
Year: 2023

Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the dystrophin (<i>DMD</i>) gene that include deletions, duplications, and point mutations. Correct diagnosis is important for providing adequate patient care and family planning, especially at this time when mutation-specific therapies are available. We report a large single-centre study on the spectrum of <i>DMD</i> gene variants observed in 750 patients analyzed for suspected Duchenne (DMD) or Becker (BMD) muscu