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Dystrophin-significance for diagnostics of neuromuscular diseases
Meznarič, Marija ; Eržen, Ida ; Zidar, Janez
Immunoperoxidase reaction for dystrophin was performed using monoclonal antibodies to central rod domain and C-terminus. It was confirmed that the diagnosis of Duchenne muscular dystrophy can be ...already established immunohistochemically, based on the absence of immunoreactivity with antibodies to C-terminus. In eight male patients where Becker muscular dystrophy (BMD) was considered in the differential diagnosis, immunolabelling with antibodies to rod domain was indistinguishable from normal. Only in one patient, where discontinuous patttern of immunolabelling of dystriphin was observed, the diagnosis of BMD was established immunohistochemically. Our results show, that immunohistochemical analysis alone cannot always diagnose BMD and are in agreement with some observations from the literature.
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