Dystrophin is the 427 kDa protein product of the DMB/BMD gene located on the X chromosome at position Xp21. Western blotting and immunohistochemistry are the two established methods for the detection of abnormalities of dystrophin expression in muscle biopsies. Dystrophin abnormalities are thought to occur in 100 per cent of patients with DMD/BMD, although genetic abnormalities may only be detected in up to 65 per cent of cases.
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Protein Aliases: apodystrophin-3; apodystrophin-I; BMD; CMD3B; DMD; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; Dystrophin; dystrophin Dp40; dystrophin Dp71a; dystrophin Dp71ab; dystrophin Dp71b; dystrophin, muscular dystrophy; X-linked muscular dystrophy
Gene Aliases: BMD; CMD3B; DMD; DNADMD1; Dp427; Dp71; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; DXSmh7; DXSmh9; dys; mdx; MRX85; pke