April 1, 1997Journal of Medical GeneticsOpen Access

Detection 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.

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Population

A large, well characterised Irish pedigree with malignant hyperthermia (MH)

Design

Other

Authors

KKKatherine E. KeatingResearchWorks (United States)LGLinda GiblinTeagasc - The Irish Agriculture and Food Development Authority PLPatrick J. LynchTulane University

Discussion

Member takes

Implication

Arg552Trp expands known RYR1 variants in MHS; in vitro data leave clinical utility and testing implications open.

Structured PICO

Population

A large, well characterised Irish pedigree with malignant hyperthermia (MH)

Intervention

Mutation screening of the RYR1 gene and correlation of the in vitro muscle contracture test (IVCT) with affected and unaffected haplotypes

Outcome

Identification of RYR1 mutations and correlation of IVCT variation with the normal RYR1 allelesurrogate

Identifies a novel RYR1 mutation (Arg552Trp) associated with malignant hyperthermia and demonstrates that the normal allele does not significantly contribute to IVCT variation.

Cite This Study

Keating et al. (1997) studied this question.

synapsesocial.com/papers/6a703e3931a3df8243288274 https://doi.org/10.1136/jmg.34.4.291

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Detection 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.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Detection 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.

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider