Key result
Heterozygous RYR1 mutations were identified in 14 of 39 unrelated families presenting with rhabdomyolysis and/or exertional myalgia.
Observational (n=39)
Yes
Heterozygous RYR1 mutations, including those linked to malignant hyperthermia, are found in a subset of families with rhabdomyolysis and exertional myalgia.
May warrant RYR1 testing in unexplained rhabdomyolysis; hypothesis-generating for variant role and penetrance.
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).
No takes yet. Share an insight, caveat, or question.
J Gordon Millichap (2013) conducted an observational in Rhabdomyolysis and/or exertional myalgia (n=39). RYR1 mutations was evaluated on Identification of heterozygous RYR1 mutations. Heterozygous RYR1 mutations were identified in 14 of 39 unrelated families presenting with rhabdomyolysis and/or exertional myalgia.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: