Laminin-α2 chain-deficient congenital muscular dystrophy: pathophysiology and development of treatment
M Durbeej - Current topics in membranes, 2015 - Elsevier
Laminin-211 is a major constituent of the skeletal muscle basement membrane. It stabilizes
skeletal muscle and influences signal transduction events from the myomatrix to the muscle
cell. Mutations in the gene encoding the α2 chain of laminin-211 lead to congenital muscular
dystrophy type 1A (MDC1A), a life-threatening disease characterized by severe hypotonia,
progressive muscle weakness, and joint contractures. Common complications include
severely impaired motor ability, respiratory failure, and feeding difficulties. Several adequate …
skeletal muscle and influences signal transduction events from the myomatrix to the muscle
cell. Mutations in the gene encoding the α2 chain of laminin-211 lead to congenital muscular
dystrophy type 1A (MDC1A), a life-threatening disease characterized by severe hypotonia,
progressive muscle weakness, and joint contractures. Common complications include
severely impaired motor ability, respiratory failure, and feeding difficulties. Several adequate …