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Article

Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.

Neuromuscular disorders : NMD - 1 May 2017

Levano Soledad, Gonzalez Asensio, Singer Martine, Demougin Philippe, Rüffert Henrik, Urwyler Albert, Girard Thierry

Abstract excerpt

Malignant hyperthermia (MH) and butyrylcholinestherase (BCHE) deficiency are two relevant pharmacogenetic disorders in anesthetic practice linked with sequence variants, the former in the RyR1 and CACNA1S genes, the latter in the BCHE gene. Genotyping for known pathogenic variants in these genes is useful to help identify susceptible individuals, and others may exist but remain unknown, because full-length...

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Source

Identifiers

PMID: 28259615
DOI: 10.1016/j.nmd.2017.02.008

Genes

BCHE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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