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Handb Clin Neurol. 2011;101:119-24. doi: 10.1016/B978-0-08-045031-5.00008-6.

Other limb-girdle muscular dystrophies.

Author information

  • Department of Neurology, Neuromuscular Division, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115-6110, USA. aamato@partners.org

Abstract

The secondary α-dystroglycanopathies usually present in infancy as congenital muscular dystrophies but may manifest later in childhood or adult life (limb-girdle muscular dystrophy (LGMD) 2I, LGMD2K, LGMD2M, LGMD2N, and LGMD2O). Patients with telethoninopathy (LGMD2B) may present with mainly proximal or distal lower extremity weakness, and notably the muscle biopsies may demonstrate rimmed vacuoles. LGMD2L is caused by newly described mutations in ANO5 and can sometimes present with distal weakness resembling Miyoshi myopathy.

Copyright © 2011 Elsevier Inc. All rights reserved.

PMID:
21496628
[PubMed - indexed for MEDLINE]
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