Core Myopathies and Risk of Malignant Hyperthermia
| Autor: | Werner Klingler, Henrik Rueffert, Frank Lehmann-Horn, Thierry Girard, Philip M. Hopkins |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Pathology
medicine.medical_specialty Myopathies Nemaline Risk Assessment Muscular Diseases Risk Factors medicine Humans Anesthesia Genetic Predisposition to Disease Multiminicore disease Myopathy Central Core Risk factor Muscular dystrophy Muscle Skeletal Myopathy business.industry Malignant hyperthermia Ryanodine Receptor Calcium Release Channel Rigid spine medicine.disease Cell calcium Phenotype Anesthesiology and Pain Medicine Mutation Calcium medicine.symptom Malignant Hyperthermia business Central core disease |
| Zdroj: | Anesthesia & Analgesia. 109:1167-1173 |
| ISSN: | 0003-2999 |
| DOI: | 10.1213/ane.0b013e3181b5ae2d |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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