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Neuromuscul Disord. 2010 Feb;20(2):122-4. doi: 10.1016/j.nmd.2009.11.005. Epub 2010 Jan 13.

Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort.

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  • 1Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA.


Two siblings were evaluated for progressive proximal weakness and elevated creatine kinase. Immunohistochemical staining in the brother's muscle biopsy showed near absence of all four sarcoglycan subunits. Clinical progression prompted a trial of deflazacort in both siblings. At 22 months of drug therapy, both patients have stable or improved strength testing. Further analysis on the muscle biopsy revealed homozygous beta-sarcoglycan gene mutation (S114F), consistent with the limb-girdle muscular dystrophy type 2E (LGME 2E). Despite the severe phenotype, deflazacort has a beneficial effect on slowing disease progression in LGME 2E similar to that seen in Duchenne muscular dystrophy.

Copyright 2009 Elsevier B.V. All rights reserved.

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