merosinipuutos
Merosinipuutos is a rare genetic disorder that affects muscle development. It is caused by mutations in the LAMA2 gene, which provides instructions for making an alpha-2 subunit of laminin. Laminin is a protein found in the extracellular matrix, a network of molecules outside of cells that provides structural support and helps cells bind to each other. In muscles, laminin plays a crucial role in anchoring muscle fibers to the surrounding tissue.
When the LAMA2 gene is mutated, the alpha-2 subunit of laminin is either absent or non-functional. This
The symptoms of merosinipuutos typically appear at birth or in early infancy. Affected individuals often exhibit
There is currently no cure for merosinipuutos. Treatment focuses on managing symptoms and improving quality of