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Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia

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Science  26 Jul 1991:
Vol. 253, Issue 5018, pp. 448-451
DOI: 10.1126/science.1862346


Malignant hyperthermia (MH) causes neurological, liver, and kidney damage and death in humans and major economic losses in the swine industry. A single point mutation in the porcine gene for the skeletal muscle ryanodine receptor (ryr1) was found to be correlated with MH in five major breeds of lean, heavily muscled swine. Haplotyping suggests that the mutation in all five breeds has a common origin. Assuming that this is the causal mutation for MH, the development of a noninvasive diagnostic test will provide the basis for elimination of the MH gene or its controlled inclusion in swine breeding programs.

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