Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy

摘要: Abstract Primary merosin-deficient congenital muscular dystrophy (CMD) is a severe form of disorder which caused by mutations in the laminin α2 chain gene ( LAMA2 ). The disease characterized marked dystrophic changes skeletal muscles during early infancy, while little known about pathological process muscle fiber degeneration. Here, we report immunohistochemical analysis ten patients with primary CMD using panel molecular markers for proteins, cellular necrosis, and apoptosis. In youngest patient (a 52 day old baby), prominent massive cell degeneration occurred association deposition C5-9 complement membrane attack complex (MAC). Most MAC-positive fibers showed severely deranged immunoreaction to dystrophin, dystroglycans, other sarcolemmal proteins. addition, found scattered positive signals Similar but milder were also observed six younger than 1 year. older 3 years, MAC apoptotic barely detectable. These findings imply that occurs very stage may contribute from infancy.