| Malignant hyperthermia susceptibility in a patient with concomitant motor neuron disease. | |
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MedLine Citation:
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PMID: 8902717 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Laboratory confirmation of a clinical suspicion of malignant hyperthermia (MH) susceptibility by the standard in vitro contracture test remains inconclusive in patients reacting only to caffeine or halothane (called 'Equivocal') or in patients with concomitant neuromuscular disease. The detection of point mutations in the ryanodine receptor gene potentially provides additional information in these cases. The diagnostic value of the Gly341 Arg mutation in a patient reacting in vitro only to caffeine was reported previously by Quane et al. (1994). The present report describes a patient with motor neuron disease carrying the Gly341 Arg mutation, expanding the diagnostic value of this mutation to the group of patients with neuromuscular diseases. |
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Authors:
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K G Monsieurs; C Van Broeckhoven; J J Martin; I Dehaene; L G Heytens |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 142 ISSN: 0022-510X ISO Abbreviation: J. Neurol. Sci. Publication Date: 1996 Oct |
Date Detail:
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Created Date: 1997-02-07 Completed Date: 1997-02-07 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 36-8 Citation Subset: IM |
Affiliation:
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Laboratory of Neurogenetics, Flemish Institute of Biotechnology, Born-Bunge Foundation, University of Antwerp-UIA, Belgium. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Calcium Channels / genetics Calmodulin-Binding Proteins / genetics Female Humans Male Malignant Hyperthermia / complications*, diagnosis, genetics* Motor Neuron Disease / complications*, diagnosis, genetics* Muscle Proteins / genetics Pedigree Point Mutation / genetics Ryanodine Receptor Calcium Release Channel |
| Chemical | |
Reg. No./Substance:
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0/Calcium Channels; 0/Calmodulin-Binding Proteins; 0/Muscle Proteins; 0/Ryanodine Receptor Calcium Release Channel |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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