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

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 s keletal muscle sample revealed, as expected, truncated dystrophin with loss in the central rod domain, but with an unusual severe deficiency in the sa rcoglycan complex, as in severe DMD. We discuss possible neighboring betwee n dystrophin and associated proteins within their complex organization at t he muscle membrane. (C) 2000 Elsevier Science B.V. All rights reserved.