title: Amyloidosis and exercise intolerance in ANO5 muscular dystrophy.
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.
authors.affiliation: Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA. Milone.Margherita@mayo.edu
authors.forename: Margherita
authors.initials: M
authors.lastname: Milone
authors.forename: Teerin
authors.initials: T
authors.lastname: Liewluck
authors.forename: Thomas L
authors.initials: TL
authors.lastname: Winder
authors.forename: Paolo T
authors.initials: PT
authors.lastname: Pianosi
mesh_terms: D000682:Amyloid / Q000235:genetics / Q000378:metabolism; D000686:Amyloidosis / Q000235:genetics* / Q000473:pathology; D000075368:Anoctamins; D018118:Chloride Channels / Q000235:genetics*; D017079:Exercise Tolerance / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*
chemical_list: C547813:ANO5 protein, human; D000682:Amyloid; D000075368:Anoctamins; D018118:Chloride Channels