Large in-frame 5’ deletions in DMD associated with mild Duchenne muscular dystrophy: two case reports and a...

Large in-frame 5’ deletions in DMD associated with mild Duchenne muscular dystrophy: two case reports and a..., Duchenne muscular dystrophy (DMD) is a degenerative muscle disorder caused by mutations in DMD, the gene encoding the approximately 427 kDa dystrophin protein. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which provides structural stability at the sarcolemma during muscle contraction by linking the internal cell cytoskeleton and external extracellular matrix [1]., Duchenne muscular dystrophy (DMD) is a degenerative muscle disorder caused by mutations in DMD, the gene encoding the approximately 427 kDa dystrophin protein. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which provides structural stability at the sarcolemma during muscle contraction by linking the internal cell cytoskeleton and external extracellular matrix [1]. Mutations in DMD result in the reduction or absence of the DGC at the sarcolemma, leading to sarcolemmal instability and progressive muscle damage., admin,