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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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Detalles Bibliográficos
Autor Principal: J Gordon Millichap
Formato: Artigo
Idioma:Inglês
Publicado: Pediatric Neurology Briefs Publishers 2013-07-01
Series:Pediatric Neurology Briefs
Assuntos:
Acceso en liña:https://www.pediatricneurologybriefs.com/articles/399
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