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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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Pediatric Neurology Briefs Publishers
2013-07-01
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| coleção: | Pediatric Neurology Briefs |
| Assuntos: | |
| Acesso em linha: | https://www.pediatricneurologybriefs.com/articles/399 |
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