September 1, 1992Anesthesia & Analgesia
A Cysteine-for-Arginine Substitution (R614C) in the Human Skeletal Muscle Calcium Release Channel Cosegregates With Malignant Hyperthermia
Key result
The R614C mutation in the RYR1 gene cosegregates with malignant hyperthermia in one family but was absent in 59 normal individuals and 79 other patients with malignant hyperthermia.
Population
A family of Northern European descent with malignant hyperthermia, 59 normal individuals from the general…
Authors
Discussion
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Implication
Supports targeted RYR1 screening in select malignant hyperthermia families; leaves open broader genetic heterogeneity.
Study Design
Type
Observational
Structured PICO
P
Population
Genetic analysis of a family of Northern European descent, 59 normal individuals, and 79 other patients with malignant hyperthermia to assess the R614C mutation in the RYR1 gene.
O
Outcome
Presence of the R614C mutation in the RYR1 genesurrogate
The R614C mutation in the RYR1 gene represents a shared pathogenesis between porcine malignant hyperthermia and a subset of human malignant hyperthermia syndrome.
Cite This Study
Hogan et al. (1992) conducted an observational in Malignant hyperthermia. R614C mutation in the RYR1 gene vs. Absence of mutation was evaluated on Presence of the R614C mutation. The R614C mutation in the RYR1 gene cosegregates with malignant hyperthermia in one family but was absent in 59 normal individuals and 79 other patients with malignant hyperthermia.