Identical de novo Mutation in the Type 1 Ryanodine Receptor Gene Associated with Fatal, Stress-induced Malignant Hyperthermia in Two Unrelated Families

BACKGROUND: Mutations in the type I ryanodine receptor gene (RYR1) result in malignant hyperthermia, a pharmacogenetic disorder typically triggered by administration of anesthetics. However, cases of sudden death during exertion, heat challenge, and febrile illness in the absence of triggering drugs...

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Autores principales: Groom, Linda, Muldoon, Sheila M., Tang, Zhen Zhi, Brandom, Barbara W., Bayarsaikhan, Munkhuu, Bina, Saiid, Lee, Hee-Suk, Qiu, X, Sambuughin, Nyamkhishig, Dirksen, Robert T.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2011
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3203251/
https://ncbi.nlm.nih.gov/pubmed/21918424
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/ALN.0b013e3182320068
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