Abstract
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 language | English (US) |
---|---|
Pages (from-to) | 610-613 |
Number of pages | 4 |
Journal | Muscle and Nerve |
Volume | 50 |
Issue number | 4 |
DOIs | |
State | Published - Oct 1 2014 |
Keywords
- 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)