Abstract:Merosin deficient congenital muscular dystrophy (MDC1A) is a fatal, autosomal recessive disease caused by laminin α2 chain deficiency, preventing formation of the extracellular matrix protein laminin 211. Afflicted children experience profound muscle weakness and degeneration and often die prematurely from failure to thrive or acute respiratory failure resulting from weak respiratory muscles and progressive scoliosis. While diseased skeletal muscle has been well characterized, airway smooth muscle (ASM) has no… Show more
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