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  1. 1 Journal of Applied Genetics

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  1. 1 1997

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  1. 1 Gronek P.

  2. 1 Slomski R.

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Molecular basis of malignant hyperthermia

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Gronek P., Slomski R.
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vol. 38
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issue 3
309-317
EN
Malignant hyperthermia (MH) is a clinical syndrome in which genetically susceptible individuals respond to the administration of potent inhalation anaesthetics and depolarization skeletal muscle relaxants with skeletal rigidity, unstable blood pressure, tachycardia, arrhythmias, hyperventilation, hypoxia, lactic and respiratory acidosis and high fever. In studies of the genetic basis of MH, a mutation was identified in the porcine (C1843T) and human (C1840T) skeletal muscle ryanodine receptor (RYR1) gene. This gene is mapped on human chromosome 19q13.1. The RYR1 gene contains 106 exons, of which two are alternatively spliced.
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