Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

Margherita Milone, Teerin Liewluck, Thomas L. Winder, Paolo T. Pianosi

Research output: Contribution to journalArticlepeer-review

41 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)13-15
Number of pages3
JournalNeuromuscular Disorders
Issue number1
StatePublished - Jan 2012


  • ANO5
  • Amyloidosis
  • Anoctamin 5
  • Anoctaminopathy
  • Muscular dystrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)


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