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April 5, 2013Anesthesia & Analgesia

Ryanodine Receptor Type 1 Gene Variants in the Malignant Hyperthermia-Susceptible Population of the United States

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Population

120 unrelated malignant hyperthermia-susceptible subjects from the United States without prior genetic…

Design

Cross-sectional

Authors

BBBarbara W. BrandomAmerican Academy of DermatologySBSaiid BinaUniformed Services University of the Health SciencesCWCynthia A. WongUniversity of Iowa

Discussion

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Implication

Warrants caution interpreting novel RYR1 variants in MH; leaves open pathogenicity pending functional studies.

Structured PICO

P
Population
120 unrelated malignant hyperthermia-susceptible (MHS) subjects from the United States without prior genetic diagnosis
I
Intervention
Genetic screening of the ryanodine receptor type 1 gene (RYR1) and the α-1 subunit of the dihydropyridine receptor gene (CACNA1S)
O
Outcome
Identification of known causative mutations and variants of uncertain significance in RYR1 and CACNA1Ssurrogate

The identification of novel and previously observed RYR1 variants of uncertain significance in MHS families highlights the need for functional studies to determine their pathogenicity.

Cite This Study

Brandom et al. (2013) studied this question.

synapsesocial.com/papers/6a703e27f44fa9f079ddd25bhttps://doi.org/10.1213/ane.0b013e31828a71ff
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Also Consider

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  3. 3Presence of Two Different Genetic Traits in Malignant Hyperthermia Families2002 · 201 citations
  4. 4Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores2002 · 167 citations
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