What causes LAMA2-RD?
LAMA2-RD is caused by mutations (disease-causing changes) in the LAMA2 gene. This gene provides the instructions for making the laminin alpha-2 protein, which connects muscle cells to the surrounding tissue and gives muscles their strength and stability. When the LAMA2 gene is mutated, there is an error in these instructions. This means the body cannot produce enough working laminin alpha-2 and without it, muscle cells are not properly supported, which leads to the muscle weakness seen in LAMA2-RD.