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A 23-year-old man gradually noticed slowly progressive difficulty running and climbing stairs and therefore he was referred. In retrospect, he had a hollow back since age 10, and when running, he had had difficulty keeping up with his peers. He had a younger brother with similar complaints. Serum CK activity was elevated (15 × ULN). EMG, which had been carried out by the referring neurologist, showed small motor unit action potentials.
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