June 12, 2000Human Molecular GeneticsOpen Access

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree

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Population

Large New Zealand Maori pedigree comprising 5 probands who experienced clinical episodes of malignant…

Design

Other

Authors

RBRosemary L. BrownMassey University

Discussion

Member takes

Implication

May guide variant screening in high-risk Maori MHS families; leaves open broader diagnostic adoption pending replication.

Structured PICO

Population

Large New Zealand Maori pedigree comprising 5 probands who experienced clinical episodes of malignant hyperthermia and 130 members diagnosed by in vitro contracture testing (IVCT)

Intervention

Sequencing of the 15 117 bp RYR1 cDNA and linkage analysis

Outcome

Identification of RYR1 mutations and linkage to malignant hyperthermia susceptibility (MHS)surrogate

Identified a novel RYR1 C-terminal mutation associated with malignant hyperthermia susceptibility in a large Maori pedigree, highlighting the importance of stringent phenotyping criteria in genetic linkage studies.

Cite This Study

Rosemary L. Brown (2000) studied this question.

synapsesocial.com/papers/6a703e3931a3df8243288271 https://doi.org/10.1093/hmg/9.10.1515

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A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree

Discussion

Member takes

Implication

Structured PICO

Cite This Study

A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree

Discussion

Member takes

Implication

Structured PICO

Cite This Study

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