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Functional Properties of RYR1 Mutations Identified in Swedish Patients with Malignant Hyperthermia and Central Core Disease
BACKGROUND: A diagnosis of malignant hyperthermia susceptibility by in vitro contraction testing can often only be performed at specialized laboratories far away from where patients live. Therefore,Expand
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RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility
Malignant hyperthermia (MH) is a pharmacogenetic disorder. Susceptibility to MH (MHS) is presumed to be inherited in an autosomal dominant way. MH crises are triggered by halogenated inhalationalExpand
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Several interacting genes influence the malignant hyperthermia phenotype
Abstract. Malignant hyperthermia (MH), a potentially lethal disorder of skeletal muscle calcium homeostasis, manifests only on exposure to certain anaesthetic drugs. The mode of inheritance appearsExpand
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Male preponderance of patients testing positive for malignant hyperthermia susceptibility
Background:  Malignant hyperthermia susceptibility is diagnosed using an in vitro contracture test (IVCT). In families in which the mutation is known, genetic tests are also available. TheExpand
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Anesthesia and spinal muscle atrophy.
  • G. Islander
  • Medicine
  • Paediatric anaesthesia
  • 1 September 2013
UNLABELLED Spinal muscle atrophy (SMA) is autosomal recessive and one of the most common inherited lethal diseases in childhood. The spectrum of symptoms of SMA is continuous and varies from neonatalExpand
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Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.
BACKGROUND Malignant hyperthermia (MH), linked to the ryanodine receptor 1 gene (RYR1) on chromosome 19, is a potentially lethal pharmacogenetic disorder which may lead to a disturbance ofExpand
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Screening of the Ryanodine 1 Gene for Malignant Hyperthermia Causative Mutations by High Resolution Melt Curve Analysis
BACKGROUND: A diagnosis of malignant hyperthermia (MH) can be determined by performing an in vitro (muscle) contracture test (IVCT) or by identifying a known MH causative mutation in the ryanodineExpand
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Comparison between the European and North American protocols for diagnosis of malignant hyperthermia susceptibility in humans.
UNLABELLED We compared the diagnostic outcome of in vitro contracture tests for diagnosis of malignant hyperthermia susceptibility performed according to the European Malignant Hyperthermia GroupExpand
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Streptococcal types in impetigo and acute glomerulonephritis among children in Addis Ababa.
Studies on the streptococcal epidemiology of impetigo in children below 12 years of age in Addis Ababa indicated that most streptococci isolated belonged to the classic serological impetigo strains.Expand
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Evaluation of anaesthesias in malignant hyperthermia negative patients
In vitro contracture test is still the most reliable method for diagnosing malignant hyperthermia susceptibility. In order to investigate the reliability of Malignant Hyperthermia Negative (MHN)Expand
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