Perturbation in dystrophin-associated glycoprotein complex in a boy with Becker muscular dystrophy.

Abstract excerpt

We report on a boy with a BMD phenotype presenting with a deletion of exons 45-49 in the DMD gene. Immunofluorescence and Western blot analysis of a skeletal muscle sample revealed, as expected, truncated dystrophin with loss in the central rod domain, but with an unusual severe deficiency in the sarcoglycan complex, as in severe DMD. We discuss possible neighboring between dystrophin and associated proteins...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to Dystrophin
• Share to Fluorescent Antibody Technique