Abstract
There are many diverse clinical and biochemical observations that have implications for the genetic interpretation of cases of malignant hyperthermia (MH). Familial and solitary cases deserve distinctive evaluations. Dominant inheritance of the predisposition to MH characterizes half or more of all cases; but even these may not be uniform in the sense that some biochemical characteristics or anatomical peculiarities may be absent. In vitro measured pharmacological responses of excised muscle specimens strongly suggest that MH is a disease which depends in most instances on more than one genetic factor.
This review entails some recommendations. For instance, testing should include both parents of an affected subject, not only the suspected carrier of the dominant gene, as was often done in the past. All non-familial cases with gross deformities (eg. King syndrome) should be checked for chromosomal abnormalities. The occasional association between MH and Duchenne muscular dystrophy encourages linkage studies with established genetic markers.
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© 1987 Martinus Nijhoff Publishing, Boston
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Kalow, W. (1987). Inheritance of Malignant Hyperthermia—A Review of Published Data. In: Britt, B.A. (eds) Malignant Hyperthermia. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-2079-1_7
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DOI: https://doi.org/10.1007/978-1-4613-2079-1_7
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