What is the role of the LAMA2 gene?
The LAMA2 gene in DNA provides the genetic instructions for the body to make the laminin alpha-2 protein. This protein connects muscle cells to the surrounding tissue, giving muscles their strength and stability. In patients with LAMA2-RD, the LAMA2 gene is mutated, meaning there is an error in the genetic instructions to make normal laminin alpha-2 protein so the body cannot make enough working protein, and the muscles aren’t properly supported leading to the symptoms of muscle weakness.