Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan.

doi:10.1213/ane.0b013e3181ae94c7

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Article

Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan.

Anesthesia and analgesia - 1 Oct 2009

Chen Po-Liang, Chang Yao-Wen, Chen Chun-Yu, Hsiang Yung-Chih, Day Yuan-Ji

Abstract excerpt

BACKGROUND: Our primary objective was to detect malignant hyperthermia (MH)-susceptible persons and thereby prevent MH episodes. We identified variants in the ryanodine receptor isoform 1 using molecular pedigree analysis. METHODS: Nineteen exons covering major hotspots were chosen for the primary screening by polymerase chain reaction, denaturing high performance liquid chromatography, and confirmed by direct...

Topics

Aged
Aged, 80 and over
Anesthesia
Asian People
Exons
Genetic Predisposition to Disease
Humans
Male
Malignant Hyperthermia
Mutation
Pedigree
Phenotype
Risk Assessment
Risk Factors
Ryanodine Receptor Calcium Release Channel
Taiwan

Source

Open in PubMed

Identifiers

PMID: 19762757
DOI: 10.1213/ane.0b013e3181ae94c7

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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