Article
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.
Anesthesiology - 1 Nov 2002
Monnier Nicole, Krivosic-Horber Renée, Payen Jean-François, Kozak-Ribbens Geneviève, Nivoche Yves, Adnet Pascal, Reyford Hugo, Lunardi Joël
Abstract excerpt
BACKGROUND: Malignant hyperthermia susceptibility (MHS), an uncommon syndrome often inherited as an autosomal dominant trait, is characterized by a genetic and clinical heterogeneity. In this article, the authors described six pedigrees in which both parents of MHS patients were diagnosed with MHS by an diagnostic test. Haplotype and mutation analysis revealed that more than one MHS genetic trait was present in...
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