Article
Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene.
American journal of human genetics - 1 Jun 1995
Deufel T, Sudbrak R, Feist Y, Rübsam B, Du Chesne I, Schäfer K L, Roewer N, Grimm T, Lehmann-Horn F, Hartung E J
Abstract excerpt
A point mutation in the gene encoding the skeletal muscle calcium release channel (RYR1) has been proposed as the probable cause of malignant hyperthermia (MH) in swine, where it segregates with the disease in all MH-prone strains investigated. The same C-to-T exchange in nucleotide position 1840 of the human RYR1 cDNA sequence was found in a few human MH pedigrees. We report a German MH pedigree where in vitro...
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