dystrophin

Dystrophin is a critical muscle protein that is essential for maintaining the structure and function of muscle cells. It plays a vital role in protecting the muscle cell membrane during contraction and connects internal cell components to the external cell membrane.12

The absence or deficiency of dystrophin leads to various forms of muscular dystrophy, most notably Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy. In DMD, which affects males and typically begins in early childhood, there is a complete lack of functional dystrophin, resulting in progressive muscle weakness and degeneration. Becker muscular dystrophy is a milder form where some functional dystrophin is produced, leading to slower progression of symptoms.3142