RYR1 Mutations, Exertional Myalgia and Rhabdomyolysis
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...
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Format: | Book |
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Pediatric Neurology Briefs Publishers,
2013-07-01T00:00:00Z.
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Online Access: | Connect to this object online. |
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Summary: | 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). |
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Item Description: | 1043-3155 2166-6482 10.15844/pedneurbriefs-27-7-3 |