Muscular Dystrophy: Mutations in the Dystrophin Gene

Muscular dystrophy (MD) is a heterogeneous group of genetic disorders characterized by progressive muscle degeneration and weakness, leading to significant morbidity and mortality. Among the various forms of MD, mutations in the dystrophin gene have emerged as a pivotal contributor to the pathogenesis of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The dystrophin gene, located on the X chromosome, encodes a large cytoskeletal protein critical for maintaining the structural integrity of muscle fibers. This chapter comprehensively explores the current state of knowledge regarding MD and its association with mutations in the dystrophin gene. Moreover, the chapter provides an overview of the clinical manifestations, genetic basis, and underlying molecular mechanisms that underpin the development of MD.