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Article

Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).

Anesthesia and analgesia - 1 Dec 2011

Haraki Toshiaki, Yasuda Toshimichi, Mukaida Keiko, Migita Takako, Hamada Hiroshi, Kawamoto Masashi

Abstract excerpt

BACKGROUND: Ryanodine receptor 1 (RyR1) is a Ca(2+) release channel located in the sarcoplasmic reticulum membrane of skeletal muscle. More than 200 variants in RyR1 have been identified in DNA from patients with malignant hyperthermia (MH) and congenital myopathies; only 30 have been sufficiently studied so as to be identified as MH-causative mutations. The Ala4894Thr RyR1 variant was found in a Japanese patient...

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Source

Identifiers

PMID: 21926372
DOI: 10.1213/ANE.0b013e318232053e

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).PMID 21926372Read ↗

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