Genetic disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.
The variants were identified in families affected by either malignanthyperthermia or central core disease.
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Coroner Phillip Byrne on Monday found Louis died from the extremely rare condition malignanthyperthermia.
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Based on the symptoms and laboratory investigations, this episode suggested a moderate form of malignanthyperthermia.
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Four patients had episodes resembling malignanthyperthermia.
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Conclusions: Heterozygous R163C mice represent a valid model for studying the mechanisms that cause the human malignanthyperthermia syndrome.
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Finally, patients with Brody disease may be at risk for malignanthyperthermia-like episodes, and therefore appropriate perioperative measures are recommended.
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Background: Central core disease and malignanthyperthermia are human disorders of skeletal muscle resulting from aberrant Ca2+ handling.
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We report two families both presenting with malignanthyperthermia susceptibility and "core" or "core-like" changes in the muscle tissue.
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Methods: With eye tracking technology, we compared the accessibility of five malignanthyperthermia cognitive aids by collecting gaze data from twelve volunteer participants.
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An in vitro contracture test was performed and a predisposition to malignanthyperthermia was diagnosed; other muscular diseases were excluded by histological examination.
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For a variant to be classified as pathogenic, functional studies must demonstrate a correlation with the pathophysiology of malignanthyperthermia or central core disease.
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Human malignanthyperthermia is a life-threatening genetic sensitivity of skeletal muscles to volatile anaesthetics and depolarizing neuromuscular blocking drugs occurring during or after anaesthesia.
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Malignanthyperthermia exhibits a gain-of-function phenotype, and central core disease results from loss of channel function.