What protein is missing in Duchenne muscular dystrophy (DMD)?
The missing gene product is a protein called dystrophin .
Dystrophin is a structural protein that helps to link extracellular matrix proteins, via the sarcoglycan complex, with actin and myosin.
It is important in several tissues, including skeletal muscle, cardiac muscle, and brain. Certain mutations of the dystrophin gene lead to essentially no dystrophin production and result in DMD.
Other mutations allow for the production of some dystrophin and cause the less severe and late-onset Becker muscular dystrophy.
