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).
Uloženo v:
| Hlavní autor: | |
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| Médium: | Artigo |
| Jazyk: | Inglês |
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Pediatric Neurology Briefs Publishers
2013-07-01
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| Edice: | Pediatric Neurology Briefs |
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| On-line přístup: | https://www.pediatricneurologybriefs.com/articles/399 |
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