distrofina
Distrofina is a protein that plays a crucial role in maintaining the structural integrity of muscle cells. It is primarily found in skeletal and cardiac muscles, where it helps anchor other proteins to the cell membrane, ensuring that muscle fibers remain stable during contraction and relaxation. Mutations in the gene responsible for producing distrofina can lead to muscle disorders.
One of the most well-known conditions associated with distrofina deficiency is Duchenne muscular dystrophy (DMD), a genetic disorder that causes progressive muscle weakness and degeneration. DMD primarily affects boys and is characterized by the absence of functional distrofina, leading to severe muscle damage over time.