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Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene BJMBR
Matos,A.R.; Sambuughin,N.; Rumjanek,F.D.; Amoedo,N.D.; Cunha,L.B.P.; Zapata-Sudo,G.; Sudo,R.T..
Malignant hyperthermia (MH) is a pharmacogenetic disease triggered in susceptible individuals by the administration of volatile halogenated anesthetics and/or succinylcholine, leading to the development of a hypermetabolic crisis, which is caused by abnormal release of Ca2+ from the sarcoplasmic reticulum, through the Ca2+ release channel ryanodine receptor 1 (RyR1). Mutations in the RYR1 gene are associated with MH in the majority of susceptible families. Genetic screening of a 5-generation Brazilian family with a history of MH-related deaths and a previous MH diagnosis by the caffeine halothane contracture test (CHCT) in some individuals was performed using restriction and sequencing analysis. A novel missense mutation, Gly4935Ser, was found in an...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Malignant hyperthermia; Mutation; Ryanodine receptor; Calcium channel.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009001200016
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