Dictionary of Human Evolution and Biology

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Muscular Dystrophy, Duchenne Type

DMD is caused by a X-linked recessive mutation in dystrophin, an essential structural muscle protein, and which results in collapsed muscle cells and produces chronic, progressive muscle weakness. Deterioration of muscle cells causes a secondary immune reaction. Different mutations in the DMD gene lead to several types of null mutations that each have characteristic ages of onset. The DMD gene is the largest known gene in humans. The Becker type of muscular dystrophy (BMD) differs in that it features reduced amounts of dystrophin.

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