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- W82684265 abstract "Malignant hyperthermia susceptibility (MHS) is an autosomal dominant, hypermetabolic disorder, triggered by potent inhalational anesthetics. We have previously suggeste the skeletal muscle sodium channel {alpha}-subunit (SCN4A) as a gene candidate to explain some forms of MHS. To evaluate this gene for mutations that might lead to a MHS-like episode, we amplified genomic DNA by PCR and used SSCP to screen each exon. We studied multiple MHS families which may be linked to this gene. The proband and a sibling from one of these families suspected of having MHS experienced trismus and body rigidity after induction of anesthesia. The caffiene and halothane contracture test proved diagnostic in these individuals and EMG studies suggested a form of myotomia. A mutation co-segregating with the myotonia/MHS phenotype was found in the region of exon 22." @default.
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- W82684265 date "1994-09-01" @default.
- W82684265 modified "2023-10-13" @default.
- W82684265 title "Malignant hyperthermia-like reaction in a family with a sodium channel mutation at residue 1306" @default.
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