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Histological Findings of Duchenne Muscular Dystrophy


DMD is an X-linked hereditary disease caused by the absence of dystrophin. Dystrophin is an important structural protein that links the internal cytoskeleton of muscle cells to the external basal lamina. It is therefore important for the structural and functional integrity of the fibers.

Loss of dystrophin leads to damage of muscle cells and then degeneration of muscle cells. In response, skeletal muscle attempts to regenerate new fibers, giving rise to many small muscle cells. Eventually, muscle degeneration outpaces replacement and muscle tissue is replaced by connective tissue.