Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man. Issue 4 (30th August 2014)

• Record Type: Journal Article
• Authors: Lahoria, Rajat; Winder, Thomas L.; Lui, Jie; Al‐Owain, Mohammed A.; Milone, Margherita
• Is Part Of: Muscle & nerve. Volume 50:Issue 4(2014:Oct.)
• Page Start: 610
• Page End: 613
• Publication Date: 2014-08-30
• Subjects: Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.24302
• Languages: English
• ISSNs: 0148-639X

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <p> <italic>Introduction</italic>: Recessive mutations in the anoctamin‐5 gene (<italic>ANO5</italic>) cause a spectrum of clinical phenotypes, including limb‐girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia. <italic>Methods</italic>: In this report we describe our clinical, electrophysiological, pathological, and molecular findings in a subject with anoctaminopathy‐5. <italic>Results</italic>: 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. <italic>ANO5</italic> analysis detected a novel homozygous deletion of approximately 11.9 kb encompassing exons 13–17, predicted to be pathogenic. <italic>Conclusions</italic>: 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 <italic>ANO5</italic> deletion was identified, suggesting that screening for common mutations may have low yield in non‐European subjects. <italic>Muscle Nerve</italic> 50: 610–613, 2014</p> </abstract>