Neuromuscular Disorders
Volume 20, Issue 2 , Pages 122-124 , February 2010

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

  • Lily C. Wong-Kisiel
    • ,
  • Nancy L. Kuntz

      Affiliations

    • Corresponding Author InformationCorresponding author. Address: Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic College of Medicine, 200 First St. SW, Rochester, MN 55905, USA. Tel.: +1 507 284 3351; fax: +1 507 284 0727.

Received 1 June 2009 ,Revised 23 September 2009 ,Accepted 4 November 2009.

References 

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  2. Moore SA, Shilling CJ, Westra S, et al. Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol. 2006;65(10):995–1003
  3. Lim LE, Duclos F, Broux O, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995;11(3):257–265
  4. Bonnemann CG, Passos-Bueno MR, McNally EM, et al. Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet. 1996;5(12):1953–1961
  5. Ginjaar HB, van der Kooi AJ, Ceelie H, et al. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. J Neurol. 2000;247(7):524–529
  6. Connolly AM, Pestronk A, Mehta S, et al. Primary alpha-sarcoglycan deficiency responsive to immunosuppression over three years. Muscle Nerve. 1998;21(11):1549–1553
  7. Angelini C, Fanin M, Menegazzo E, et al. Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. Muscle Nerve. 1998;21(6):769–775
  8. Manzur AY, Kuntzer T, Pike M, et al. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2008;1:CD003725
  9. Escolar DM, Gorni K, Tesi-Rocha AC, et al. Pentoxifylline treatment fails to rescue muscle strength and function deterioration in prednisone-treated Duchenne muscular dystrophy (DMD). Neuromuscul Disord. 2008;18(9–10):824–825
  10. Burdi R, Rolland JF, Fraysse B, et al. Multiple pathological events in exercised dystrophic mdx mice are targeted by pentoxifylline: outcome of a large array of in vivo and ex vivo tests. J Appl Physiol. 2009;106:1311–1324

PII: S0960-8966(09)00687-7

doi: 10.1016/j.nmd.2009.11.005

Neuromuscular Disorders
Volume 20, Issue 2 , Pages 122-124 , February 2010

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