dystrophin
Dystrophin is a protein found in muscle cells that plays a crucial role in maintaining the structural integrity of muscle fibers. It connects the internal cytoskeleton of muscle cells to the surrounding extracellular matrix, helping to protect muscles from damage during contraction and relaxation.
Mutations in the gene responsible for producing dystrophin can lead to serious muscle disorders, such as Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). These conditions result in progressive muscle weakness and degeneration, significantly impacting mobility and overall quality of life.