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Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man
Author(s) -
Lahoria Rajat,
Winder Thomas L.,
Lui Jie,
AlOwain Mohammed A.,
Milone Margherita
Publication year - 2014
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24302
Subject(s) - myalgia , rhabdomyolysis , medicine , arabic , dermatology , linguistics , philosophy
: 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. Muscle Nerve 50: 610–613, 2014