Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man

Rajat Lahoria, Thomas L. Winder, Jie Lui, Mohammed A. Al-Owain, Margherita Milone

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Introduction: 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.

Original languageEnglish (US)
Pages (from-to)610-613
Number of pages4
JournalMuscle and Nerve
Issue number4
StatePublished - Oct 1 2014


  • ANO5
  • ANO5 deletion
  • Amyloidosis
  • Anoctaminopathy
  • Hyper-CK-emia
  • Muscular dystrophy
  • Pseudometabolic myopathy
  • Rhabdomyolysis

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)


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