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

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
Externally publishedYes

Bibliographical note

Funding Information:
This study was supported in part by the Mayo Clinic CTSA through NIH/NCRR grant number UL1 RR024150 . We thank the patient and her family for their cooperation in the study.

Keywords

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

Fingerprint Dive into the research topics of 'Amyloidosis and exercise intolerance in ANO5 muscular dystrophy'. Together they form a unique fingerprint.

Cite this