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Muscular Dystrophy

Part 1 of Paper
.... they are hereditary; they are progressive; and each causes a characteristic and selective pattern of weakness. Duchenne (DMD) is the most prevalent and severe childhood form of this group of diseases. Each form of is caused by a defect in a specific gene. In 1986, scientists discovered exactly which piece of gen....

Part 2 of Paper
....and cytoplasmic membrane proteins: [Alpha]-dystroglycan; [Alpha]-, [Beta]- and [Gamma]- sarcoglycans (see Figure 1). The DAGC provides a physical link and, potentially, a signaling pathway between the extracellular matrix and the internal scaffolding of the muscle cells. Mutations in the Duchenne gene result in dystrophin deficiency, which constitutes the pathogenic basis of DMD. Dystrophin is either absent or severely deficient in a person with DMD. When dystrophin is lost through gene muta....

Number of words: 1991 - Approximate pages: 8

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