MUSCLE PHYSIOLOGY

Detailed explanation-1: -Causes. Mutations in the DMD gene cause the Duchenne and Becker forms of muscular dystrophy. The DMD gene provides instructions for making a protein called dystrophin . This protein is located primarily in skeletal and cardiac muscle, where it helps stabilize and protect muscle fibers.

Detailed explanation-2: -The Duchenne muscular dystrophy inheritance pattern is X-linked, meaning the DMD gene is tied to the X chromosome. The genetic variant or mutation that leads to DMD is recessive, which is why it matters whether a person has just one copy of the X chromosome or two.

Detailed explanation-3: -Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). However, it often occurs in people without a known family history of the condition.

Detailed explanation-4: -Duchenne muscular dystrophy (DMD) is caused by mutations in the gene that encodes the 427-kDa cytoskeletal protein dystrophin. Increased knowledge of the function of dystrophin and its role in muscle has led to a greater understanding of the pathogenesis of DMD.