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Muscular Dystrophy Is a Group of Inherited Disorders That Lead

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Muscular dystrophy is a group of inherited disorders that lead to increasing muscle cell loss and thus muscle weakness over time. There are many different types of muscular dystrophy. Symptoms can vary, although all involve muscle weakness. Duchenne muscular dystrophy (DMD) is a recessive X-linked form that leads to muscle degeneration and death usually by age 25. Symptoms begin before age 5 and include low endurance and difficulties standing. As the condition progresses, muscle tissue is replaced with adipose and other types of connective tissue. Abnormal bone development and some neurobehavioral and learning disabilities may also occur. DMD occurs as a result of a mutation in a single gene on the X chromosome. This gene codes for a particular protein, dystrophin, which plays a major role in the structure of muscle cells. The protein formed by the mutated gene is nonfunctional, and the absence of a functional protein eventually leads to cell death. For a girl to show symptoms of the disease, she must have _____ copies of the gene.


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