Literature DB >> 11573677

Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia.

A Urwyler1, T Deufel, T McCarthy, S West.   

Abstract

Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disease triggered by several anaesthetic agents. The in vitro muscle contracture test (IVCT) is the standard test to establish an individual's risk of susceptibility to MH. Clinical practitioners and geneticists of the European MH Group have agreed on the present guidelines for the detection of MH susceptibility using molecular genetic techniques and/or IVCT to predict the risk of MH.

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Year:  2001        PMID： 11573677     DOI： 10.1093/bja/86.2.283

Source DB:  PubMed          Journal:  Br J Anaesth        ISSN： 0007-0912            Impact factor:   9.166


  35 in total

1.  Statin-induced muscle toxicity and susceptibility to malignant hyperthermia and other muscle diseases: a population-based case-control study including 1st and 2nd degree relatives.

Authors:  Karin Hedenmalm; Arzu Gunes Granberg; Marja-Liisa Dahl
Journal:  Eur J Clin Pharmacol       Date:  2014-11-01       Impact factor: 2.953

2.  Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation.

Authors:  Takahiro Tanabe; Makoto Fukusaki; Yoshiaki Terao; Kazunori Yamashita; Koji Sumikawa; Keiko Mukaida; Carlos A Ibarra; Ichizo Nishino
Journal:  J Anesth       Date:  2008-02-27       Impact factor: 2.078

3.  [Hotline for malignant hyperthermia. New telephone number for the German nationwide 24 h service center: 08221/9600].

Authors:  W Klingler; F Lehmann-Horn; U Schulte-Sasse
Journal:  Anaesthesist       Date:  2011-02       Impact factor: 1.041

4.  Clinical utility gene card for: malignant hyperthermia.

Authors:  Henry Rosenberg; Henrik Rueffert
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

Review 5.  [Malignant hyperthermia].

Authors:  T Metterlein; F Schuster; B M Graf; M Anetseder
Journal:  Anaesthesist       Date:  2014-12       Impact factor: 1.041

6.  Genetic epidemiology of malignant hyperthermia in the UK.

Authors:  D M Miller; C Daly; E M Aboelsaod; L Gardner; S J Hobson; K Riasat; S Shepherd; R L Robinson; J G Bilmen; P K Gupta; M-A Shaw; P M Hopkins
Journal:  Br J Anaesth       Date:  2018-08-17       Impact factor: 9.166

7.  [Telephone enquiries on the topic of malignant hyperthermia: Evaluation of the content and subsequent diagnostic results at the MH Center Leipzig].

Authors:  B Petersen; T Busch; C-D Meinecke; B Börge; K Kluba; U X Kaisers; H Rüffert
Journal:  Anaesthesist       Date:  2015-10-19       Impact factor: 1.041

Review 8.  PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics.

Authors:  Maria L Alvarellos; Ellen M McDonagh; Sephalie Patel; Howard L McLeod; Russ B Altman; Teri E Klein
Journal:  Pharmacogenet Genomics       Date:  2015-12       Impact factor: 2.089

9.  Progressive scoliosis in central core disease.

Authors:  Kirsten D Mertz; Bernhard Jost; Markus Glatzel; Kan Min
Journal:  Eur Spine J       Date:  2005-05-31       Impact factor: 3.134

10.  A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.

Authors:  Seul-Ki Jeong; Dong-Chan Kim; Yong-Gon Cho; Il-Nam Sunwoo; Dal-Sik Kim
Journal:  J Clin Neurol       Date:  2008-09-30       Impact factor: 3.077
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