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A Comprehensive Review Of Duchenne Muscular Dystrophy: Genetics, Clinical Presentation, Diagnosis, And Treatment, Kylie A. Limback, William D. Jacobus, Amber Wiggins-Mcdaniel, Ramon E. Newman, Robert A. White

Faculty Publications

Duchenne Muscular Dystrophy (DMD) is a genetic disorder involving progressive muscle deterioration leading to loss of mobility, cardiomyopathy, and respiratory complications leading to an early death by the fourth decade of life. Males are affected more often as DMD results from a mutation in the dystrophin gene residing on the X chromosome. The DMD genetic mutation results in a complete functional lack of dystrophin, which culminates as an inadequate connection between the intracellular actin filaments and the extracellular skeleton of muscle. Boys affected by DMD clinically present with muscle weakness before age five, are often wheelchair-bound by age 12, and …