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Article

Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort.

Clinical genetics - 1 Oct 2015

Broman M, Kleinschnitz I, Bach J E, Rost S, Islander G, Müller C R

Abstract excerpt

Malignant hyperthermia (MH)-related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes. We designed a gene panel for sequence enrichment targeting 64 genes of proteins involved in the...

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Source

Identifiers

PMID: 25256590
DOI: 10.1111/cge.12508

Genes

RYR1

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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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