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Article

Malignant Hyperthermia in Slavonic cohort - clinical and genetic findings beyond standard diagnostics.

Orphanet journal of rare diseases - 31 Mar 2026

Klincová Martina, Zídková Jana, Réblová Kamila, Štěpánková Dagmar, Schröderová Ivana, Gaillyová Renata, Bönischová Tereza, Havránková Natálie, Tomášková Veronika, Kramářová Tereza, Fajkusová Lenka, Štourač Petr

Abstract excerpt

BACKGROUND: Malignant Hyperthermia (MH) is a rare, hereditary, life-threatening pharmacogenetic disorder. The genetic background of MH was identified only in approximately half of MH-susceptible (MHS) patients, differing between geographical areas. Variants recognised as being sufficiently functionally characterised to be used in diagnostics for MH are on the “European Malignant Hyperthermia Group list of...

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Identifiers

PMID: 41913278
DOI: 10.1186/s13023-026-04339-w
PMCID: PMC13159318

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RYR1

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