Homozygote und „compound“-heterozygote RYR1-Mutationen

Author:

Wolak S.,Rücker B.,Kohlschmidt N.,Doetsch S.,Bartsch O.,Zechner U.,Tzanova I.

Publisher

Springer Science and Business Media LLC

Subject

Anesthesiology and Pain Medicine,General Medicine

Reference18 articles.

1. Anetseder M, Roewer N (2012) Maligne Hyperthermie. In: Roissant R, Werner C, Zwißler B (Hrsg) Die Anästhesiologie. Springer, Berlin Heidelberg New York Tokio, S 1273–1281

2. Brandt A, Schleithoff L, Jurkat-Rott K et al (1999) Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Hum Mol Genet 8:2055–2062

3. Carpenter D, Robinson RL, Quinnell RJ et al (2009) Genetic variation in RYR1 and malignant hyperthermia phenotypes. Br J Anaesth 103:538–548

4. Deufel T, Sudbrak R, Feist Y et al (1995) Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS 1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene. Am J Hum Genet 56:1334–1342

5. European MH Group (1984) A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth 56:1267–1269

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