Congenital muscular dystrophy: merosin deficient form
The congenital muscular dystrophies are a heterogeneous group of inherited, mostly autosomal recessive neuromuscular disorders. LAMA2 (merosin) is a component of the basal lamina of skeletal muscles and is associated with the most frequent form of congenital muscular dystrophy. The extent of laminin-alpha2 deficiency dictates disease severity in most cases. Morbidity and mortality are usually due to secondary complications of underlying weakness.
Aug. 03, 2020