Genetics of Malignant Hyperthermia

Study of the genetics of the malignant hyperthermia syndrome began in families in which both malignant hyperthermia (MH) episodes had been experienced and individuals had strongly positive contracture tests diagnostic of susceptibility to MH. Linkage studies associated this MH phenotype to the ryano...

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Detalles Bibliográficos
Autor principal: Brandom, Barbara W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: TheScientificWorldJOURNAL 2006
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5917193/
https://www.ncbi.nlm.nih.gov/pubmed/17195870
http://dx.doi.org/10.1100/tsw.2006.289
Descripción
Sumario:Study of the genetics of the malignant hyperthermia syndrome began in families in which both malignant hyperthermia (MH) episodes had been experienced and individuals had strongly positive contracture tests diagnostic of susceptibility to MH. Linkage studies associated this MH phenotype to the ryanodine receptor gene (RYR1) at chromosome 19q13.1 in many families. Although the MH phenotype is not always linked to chromosome 19, the RYR1 has remained the focus of experimentation. Other candidate genes exist, but few MH-susceptible families have variants of these genes. Hundreds of MH-susceptible people have variants of RYR1.

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