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Neuromuscul Disord. 2012 Jan;22(1):13-5. doi: 10.1016/j.nmd.2011.07.005. Epub 2011 Aug 4.

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy.

Author information

  • 1Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA. Milone.Margherita@mayo.edu

Abstract

Anoctamin 5 and dysferlin mutations can result in myopathies with similar clinical phenotype. Amyloid deposits can occur in the muscle of patients with dysferlinopathy. We describe a 53-year-old woman with exercise intolerance since childhood, recurrent rhabdomyolysis and late-onset weakness. Muscle biopsy showed amyloid deposits within the blood vessel walls and around muscle fibers. Mutation analysis identified two pathogenic heterozygous mutations in anoctamin 5 and no mutations in dysferlin. To our knowledge this is the first report of muscle amyloidosis in anoctamin 5 muscular dystrophy. This finding suggests that patients with amyloid in muscle should be screened for anoctamin 5 muscular dystrophy.

Copyright © 2011 Elsevier B.V. All rights reserved.

PMID:
21820307
[PubMed - indexed for MEDLINE]
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