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Molecular basis of malignant hyperthermia

100%

Gronek P., Slomski R.

Journal of Applied Genetics

1997

tom 38

nr 3

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 arc alternatively spliced.

Ograniczanie wyników

1 Journal of Applied Genetics

1 Gronek P.

1 Slomski R.

1 1997

Wyniki wyszukiwania

Molecular basis of malignant hyperthermia