Published 2013 | Version v1.0.0
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RYR1 Mutations, Exertional Myalgia and Rhabdomyolysis

Abstract

Investigators at Guys & 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).

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PNB-2013-27-7-3

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2013
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