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Article

[What significance to genotype changes have in diagnosis of malignant hyperthermia?].

Anasthesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie : AINS - 1 Aug 1996

Steinfath M, Scholz J, Singh S, Wappler F

Abstract excerpt

Malignant hyperthermia (MH) is a potentially fatal, inherited pharmacogenetic disorder characterised by a dysfunction of the intracellular calcium regulation. Linkage to DNA markers from the chromosome 19q12-13.2 region and the MHS-phenotype (MH susceptible) has been shown in about 50% of families with a history of MH. The ryanodine receptor gene encoding the human skeletal muscle ryanodine receptor has been...

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Identifiers

PMID: 8962927
DOI: 10.1055/s-2007-995932

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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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