Amyloidosis and exercise intolerance in ANO5 muscular dystrophy

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


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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Amyloid / genetics
  • Amyloid / metabolism
  • Amyloidosis / genetics*
  • Amyloidosis / pathology
  • Anoctamins
  • Chloride Channels / genetics*
  • Exercise Tolerance / genetics*
  • Female
  • Humans
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Mutation / genetics*


  • ANO5 protein, human
  • Amyloid
  • Anoctamins
  • Chloride Channels