For Connor who has Duchenne Disease
Organized by: Glenn Carbone
Duchenne muscular dystrophy (DMD) is an X-linked recessive form of muscular dystrophy, affecting around 1 in 3,600 boys, which results in muscle degeneration and premature death. The disorder is caused by a mutation in the gene dystrophin, located on the human X chromosome, which codes for the protein dystrophin. Dystrophin is an important component within muscle tissue that provides structural stability to the dystroglycan complex (DGC) of the cell membrane. While both sexes can carry the mutation, females are rarely affected.