Article
Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations.
Neuromuscular disorders : NMD - 1 Jan 1992
Deufel T, Müller-Felber W, Pongratz D E, Hübner G, Johnson K, Iaizzo P A, Lehmann-Horn F
Abstract excerpt
Malignant hyperthermia (MH) is a pharmacogenetic myopathy triggered by a variety of anaesthetic agents and muscle relaxants. In humans, susceptibility to MH is inherited as an autosomal dominant trait, and susceptible patients do not show a clinically relevant myopathy unless having suffered from a MH crisis. Homozygosity for the MHS trait is thought to be an uncommon finding, and so far only a few cases of...
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