Core myopathies and risk of malignant hyperthermia

Werner Klingler; Henrik Rueffert; Frank Lehmann-Horn; Thierry Girard; Philip M Hopkins

doi:10.1213/ANE.0b013e3181b5ae2d

Core myopathies and risk of malignant hyperthermia

Anesth Analg. 2009 Oct;109(4):1167-73. doi: 10.1213/ANE.0b013e3181b5ae2d.

Authors

Werner Klingler¹, Henrik Rueffert, Frank Lehmann-Horn, Thierry Girard, Philip M Hopkins

Affiliation

¹ Department of Anaesthesiology, University of Ulm, Ulm, Germany.

PMID: 19762745
DOI: 10.1213/ANE.0b013e3181b5ae2d

Abstract

In this article, we analyze myopathies with cores, for which an association to malignant hyperthermia (MH) has been suggested. We discuss the clinical features, the underlying genetic defects, subsequent effects on cellular calcium metabolism, and in vitro muscle responses to MH triggers. We describe in detail central core disease, multiminicore disease, and nemaline rod myopathy. We categorize the diseases according to the affected proteins and discuss the risk for MH, which is high or theoretically possible when the calcium-conducting proteins are affected.

Publication types

Review

MeSH terms

Anesthesia / adverse effects*
Calcium / metabolism
Genetic Predisposition to Disease
Humans
Malignant Hyperthermia / etiology*
Malignant Hyperthermia / metabolism
Muscle, Skeletal / metabolism*
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Muscular Diseases / complications*
Muscular Diseases / genetics
Muscular Diseases / metabolism
Mutation
Myopathies, Nemaline / complications
Myopathy, Central Core / complications
Phenotype
Risk Assessment
Risk Factors
Ryanodine Receptor Calcium Release Channel / genetics

Substances

Ryanodine Receptor Calcium Release Channel
Calcium