Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

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

Research output: Contribution to journalArticle

39 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)13-15
Number of pages3
JournalNeuromuscular Disorders
Volume22
Issue number1
DOIs
StatePublished - Jan 2012

Fingerprint

Muscular Dystrophies
Amyloidosis
Exercise
Muscles
Mutation
Amyloid Plaques
Rhabdomyolysis
Muscular Diseases
Amyloid
Blood Vessels
Phenotype
Biopsy

Keywords

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

ASJC Scopus subject areas

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

Cite this

Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. / Milone, Margherita; Liewluck, Teerin; Winder, Thomas L.; Pianosi, Paolo T.

In: Neuromuscular Disorders, Vol. 22, No. 1, 01.2012, p. 13-15.

Research output: Contribution to journalArticle

Milone, Margherita ; Liewluck, Teerin ; Winder, Thomas L. ; Pianosi, Paolo T. / Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. In: Neuromuscular Disorders. 2012 ; Vol. 22, No. 1. pp. 13-15.
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