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Article

Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.

Journal of anesthesia - 1 Apr 2018

Kondo Takashi, Yasuda Toshimichi, Mukaida Keiko, Otsuki Sachiko, Kanzaki Rieko, Miyoshi Hirotsugu, Hamada Hiroshi, Nishino Ichizo, Kawamoto Masashi

Abstract excerpt

PURPOSE: The aim of this study was to analyze the genetic and functional role of a novel RYR1 variant c.251 C > T (p.Thr84Met) identified in a patient with muscle weakness demonstrating MH susceptibility. METHODS: DNA testing of family members was conducted for assessment of pathogenicity of the genetic variant. For functional analysis, Ca2+ measurement using patient-derived myotubes and p.Thr84Met...

Read the complete abstract on PubMed

Topics

Animals
Caffeine
Calcium
Child
Cresols
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

HEK293 Cells

Humans

Male

Malignant Hyperthermia

Muscle Fibers, Skeletal

Muscle, Skeletal

Mutation

Rabbits

Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 29344738
DOI: 10.1007/s00540-018-2451-6

Genes

RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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