Dystrophin expression in an Egyptian family suffering from muscular dystrophy

Conclusion: Dystrophin immunohistochemical staining confirms the diagnosis of Duchenne muscle dystrophy/Becker muscle dystrophy dystrophinopathy by showing different patterns of dystrophin protein expression. Although Duchenne muscle dystrophy/Becker muscle dystrophy are both X linked, yet, in our study, the female sibling showed severe disease expression possibly because of skewed X inactivation.
Source: Egyptian Journal of Pathology - Category: Pathology Tags: Original Articles Source Type: research