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January 1, 1994Human Molecular Genetics

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

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Population

104 unrelated malignant hyperthermia susceptible (MHS) individuals and a normal population sample

Comparison

SSCP analysis screening of the RYR1 gene vs Normal population sample

Design

Other

Authors

KKKatherine E. KeatingResearchWorks (United States)KQKathleen A. QuaneUniversity College CorkBMBernadette M. ManningDublin City University

Discussion

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Implication

May support expanded RYR1 panels in MHS; leaves open pathogenicity and testing utility pending validation.

Structured PICO

P
Population
104 unrelated malignant hyperthermia susceptible (MHS) individuals and a normal population sample
I
Intervention
SSCP analysis screening of the RYR1 gene
C
Comparator
Normal population sample
O
Outcome
Detection of novel MHS mutations in the RYR1 genesurrogate

Identified a novel Gly2433Arg mutation in the RYR1 gene associated with malignant hyperthermia susceptibility, suggesting a second mutation cluster region.

Cite This Study

Keating et al. (1994) studied this question.

synapsesocial.com/papers/6a703dfce36a167817e1fee1https://doi.org/10.1093/hmg/3.10.1855
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies1994 · 112 citations
  2. 2Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families2010 · 45 citations
  3. 3Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test1999 · 129 citations
  4. 4Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.1997 · 43 citations
  5. 5Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia2002 · 15 citations