Document Detail

Malignant hyperthermia susceptibility in a patient with concomitant motor neuron disease.
MedLine Citation:
PMID:  8902717     Owner:  NLM     Status:  MEDLINE    
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.
K G Monsieurs; C Van Broeckhoven; J J Martin; I Dehaene; L G Heytens
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  142     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  1996 Oct 
Date Detail:
Created Date:  1997-02-07     Completed Date:  1997-02-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  36-8     Citation Subset:  IM    
Laboratory of Neurogenetics, Flemish Institute of Biotechnology, Born-Bunge Foundation, University of Antwerp-UIA, Belgium.
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MeSH Terms
Calcium Channels / genetics
Calmodulin-Binding Proteins / genetics
Malignant Hyperthermia / complications*,  diagnosis,  genetics*
Motor Neuron Disease / complications*,  diagnosis,  genetics*
Muscle Proteins / genetics
Point Mutation / genetics
Ryanodine Receptor Calcium Release Channel
Reg. No./Substance:
0/Calcium Channels; 0/Calmodulin-Binding Proteins; 0/Muscle Proteins; 0/Ryanodine Receptor Calcium Release Channel

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