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Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian.

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Presentation on theme: "Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian."— Presentation transcript:

1 Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees  M. Davis, R. Brown, A. Dickson, H. Horton, D. James, N. Laing, R. Marston, M. Norgate, D. Perlman, N. Pollock, K. Stowell  British Journal of Anaesthesia  Volume 88, Issue 4, Pages (April 2002) DOI: /bja/ Copyright © 2002 British Journal of Anaesthesia Terms and Conditions

2 Fig 1 Pedigree diagrams. (a) New Zealand Maori kindred with congenital abnormalities. The proband's mother (II-1) has had three partners. (b and c). Australian kindreds with non-specific muscle myopathies. The chromosome 19 haplotype (D19S220, Ile1151, Asp2729, Ser2862, D19S47) co-segregating with MH is shown boxed. The haplotypes are represented as alleles (+) and (–) refer to presence or absence, respectively, of the C1201T mutation. British Journal of Anaesthesia  , DOI: ( /bja/ ) Copyright © 2002 British Journal of Anaesthesia Terms and Conditions

3 Fig 2 Detection of the C1201T mutation by SNAPshot™ dideoxy primer extension. The upper panel shows the normal primer extension product from a homozygous normal control. The lower panel shows two primer extension products from the heterozygous MHS subject. British Journal of Anaesthesia  , DOI: ( /bja/ ) Copyright © 2002 British Journal of Anaesthesia Terms and Conditions

4 Fig 3 Conservation of R401C and I403M in isoforms of the ryanodine receptor (RyR). The accession numbers are as follows: RyR1 human, P21817; RyR pig, P16960; RyR1 rabbit, P11716; RyRa bullfrog, Q91313; RyR1 fish, O13054; RyR3 chicken, Q90985; RyR3 mink, Q95201; RyR3 human, AJ001515; RyR3 rabbit, X68650; RyRb bullfrog, Q91319; RyR2 human, X98330; RyR2 rabbit, Q29621; RyR Drosophila, Q Alignments were generated with manually edited FastA outputs using CLUSTALW. British Journal of Anaesthesia  , DOI: ( /bja/ ) Copyright © 2002 British Journal of Anaesthesia Terms and Conditions


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