Pathophysiology
A mutation in the FKTN gene results in a malformed fukutin protein. Fukutin's function in development is uncertain, but it is proposed that fukutin modifies the alpha-dystroglycan protein, which is important in anchoring cells to certain molecules, specifically including some proteins. Alpha-dystroglycan in skeletal muscles helps to prevent the breakdown of muscle fibers through stabilization and protection. Alpha-dystroglycan also helps brain development by assisting in the migration of neurons.
Most frequently, FKTN is mutated in such a way that creates a shortage of fukutin in the cell, which in turn creates problems during formation of alpha-dystroglycan leading to less stabilization of muscle cells. Use of the destabilized muscle fibers overtime causes them to breakdown and a gradual decline in muscle tone and atrophy of muscle fibers occurs. The decline in cerebral fukutin causes neuronal cells to continue moving beyond their intended destination and sometimes outside of the brain. Researchers believe this migration of neuronal cells outside of the brain causes the cobblestone lissencephaly.
Read more about this topic: Fukuyama Congenital Muscular Dystrophy