RYR1 Mutations, Exertional Myalgia and Rhabdomyolysis
DOI:
https://doi.org/10.15844/pedneurbriefs-27-7-3Keywords:
Ryanodine Receptor Gene, Malignant Hyperthermia, RhabdomyolysisAbstract
Investigators at Guy’s & St Thomas’ Hospital, London, UK, and other centers sequenced RYR1 in 39 unrelated families with rhabdomyolysis and/or exertional myalgia and identified 9 heterozygous RYR1 mutations in 14 families, 5 of them previously associated with malignant hyperthermia (MH).Published
2013-07-01
Issue
Section
Myopathies
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