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Dystrophin is the 427kDa protein product of the DMB/BMD gene located on the X chromosome at position Xp21. Western blotting and immuohistochemistry are the two established methods for the detection of abnormalities of dystrophin expression in muscle biopsies. Dystrophin abnormalities are thought to occur in 100% of patients with DMD/BMD, although genetic abnormalities may only be detected in up to 65% of cases.
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