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Duchenne Muscular Dystrophy (DMD) is a rare muscle-wasting disease caused by mutations in the dystrophin gene. Dystrophin provides structural support to muscle cell membranes during contraction and relaxation. When dystrophin is absent, muscles undergo degeneration, leading to muscle weakness and eventual heart and/or respiratory failure.
Understanding the disease phenotype in animal models is crucial for preclinical evaluations. DMD, an X-linked pediatric muscle disease caused by dystrophin gene mutations, results in the complete loss of dystrophin. Using mdx mice in research, while common, has limitations due to their milder phenotype compared to humans in modeling DMD treatments.
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