title: Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.
abstract: BACKGROUND
  Recessive mutations in the anoctamin-5 gene (ANO5) cause a spectrum of clinical phenotypes, including limb-girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia.
  
  
  METHODS
  In this report we describe our clinical, electrophysiological, pathological, and molecular findings in a subject with anoctaminopathy-5.
  
  
  RESULTS
  A 49-year-old Arabic man from a consanguineous family presented with a 5-year history of myalgias, hyperCKemia and an episode of unprovoked rhabdomyolysis. Muscle biopsy showed mild myopathic changes and interstitial amyloid deposition. ANO5 analysis detected a novel homozygous deletion of approximately 11.9 kb encompassing exons 13-17, predicted to be pathogenic.
  
  
  CONCLUSIONS
  Anoctaminopathy-5 can manifest with a phenotype reminiscent of metabolic myopathy and should be considered as a potential cause of myalgia and myoglobinuria. Amyloid deposition in the muscle biopsy is helpful for the diagnosis. A novel homozygous ANO5 deletion was identified, suggesting that screening for common mutations may have low yield in non-European subjects.
authors.affiliation: Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.
authors.forename: Rajat
authors.initials: R
authors.lastname: Lahoria
authors.forename: Thomas L
authors.initials: TL
authors.lastname: Winder
authors.forename: Jie
authors.initials: J
authors.lastname: Lui
authors.forename: Mohammed A
authors.initials: MA
authors.lastname: Al-Owain
authors.forename: Margherita
authors.initials: M
authors.lastname: Milone
mesh_terms: D000075368:Anoctamins; D018118:Chloride Channels / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D063806:Myalgia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012206:Rhabdomyolysis / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: C547813:ANO5 protein, human; D000075368:Anoctamins; D018118:Chloride Channels
keywords: ANO5; ANO5 deletion; amyloidosis; anoctaminopathy; hyper-CK-emia; muscular dystrophy; pseudometabolic myopathy; rhabdomyolysis