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Article

Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation.

Journal of anesthesia - 1 Jan 2008

Tanabe Takahiro, Fukusaki Makoto, Terao Yoshiaki, Yamashita Kazunori, Sumikawa Koji, Mukaida Keiko, Ibarra Carlos A, Nishino Ichizo

Abstract excerpt

Malignant hyperthermia (MH) is an autosomal dominant disorder of skeletal muscle calcium regulation, and the rate of calcium-induced calcium release (CICR), determined by using skinned fibers of skeletal muscle, has been employed as a diagnostic test for MH susceptibility in Japan. The ryanodine...

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Source

Identifiers

PMID: 18306019
DOI: 10.1007/s00540-007-0575-1

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18306019-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation.PMID 18306019Read ↗

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Ryanodine receptor mutations in malignant hyperthermia and central core disease.Semantic proximity Read ↗

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A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.Semantic proximity Read ↗

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