Which protein is affected in Congenital Muscular Dystrophy?

Congenital Muscular Dystrophy (CMD) is primarily associated with defects in the proteins that are part of the extracellular matrix or the muscle membrane complex. One of the main proteins affected in CMD is laminin, specifically laminin-211. Laminins are key components of the basement membrane that provide structural support to tissues, and they play a crucial role in muscle fiber maintenance and stability. The absence or dysfunction of laminin can lead to the muscle degeneration and weakness characteristic of congenital muscular dystrophies.

Dystrophin, another protein mentioned, is primarily associated with Duchenne and Becker muscular dystrophies rather than CMD. Actin and tropomyosin are structural proteins within the muscle fibers, but they are not specifically implicated in the pathogenesis of Congenital Muscular Dystrophy. Therefore, laminin’s role in maintaining the muscle architecture is central to understanding how its dysfunction leads to the muscular impairment seen in these patients.