May 1, 2000Human Mutation

Ryanodine receptor mutations in malignant hyperthermia and central core disease

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Population

Patients with malignant hyperthermia (MH) and central core disease (CCD)

Design

Review

Authors

TMTommie V. McCarthyUniversity College Cork KQKathleen A. QuaneUniversity College Cork PLPatrick J. LynchTulane University

Discussion

Member takes

Implication

Informs MH genetic testing panels; extends RYR1 mutation spectrum but leaves validation of causality open.

Structured PICO

Population

Patients with malignant hyperthermia (MH) and central core disease (CCD)

RYR1 mutations account for susceptibility to malignant hyperthermia in over 50% of cases and the majority of central core disease cases by altering calcium channel kinetics.

Cite This Study

McCarthy et al. (2000) studied this question.

synapsesocial.com/papers/6a1f2edc0a715b28e072a8ea https://doi.org/10.1002/(sici)1098-1004(200005)15:5<410::aid-humu2>3.0.co;2-d

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Ryanodine receptor mutations in malignant hyperthermia and central core disease

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Ryanodine receptor mutations in malignant hyperthermia and central core disease

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider