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Several interacting genes influence the malignant hyperthermia phenotype

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Abstract.

Malignant hyperthermia (MH), a potentially lethal disorder of skeletal muscle calcium homeostasis, manifests only on exposure to certain anaesthetic drugs. The mode of inheritance appears to be autosomal dominant with both locus and allelic heterogeneity having been reported. Association analysis of eight MH candidate loci in UK families has indicated that several genes influence susceptibility in individual families, rather than MH simply being a major gene defect. In support of this hypothesis, we present data on a replica analysis of an independent sample of European MH families.

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Authors and Affiliations

  1. MH Investigation Unit, Academic Unit of Anaesthesia, St James University Hospital, Leeds, LS9 7TF, UK, , , , ,

    Rachel Robinson, Philip Hopkins & Jane Halsall

  2. School of Biology, University of Leeds, Miall Building, Clarendon Way, Leeds, LS2 9JT, UK, , , , ,

    Marie-Anne Shaw

  3. Dipartimento di Biochemica, Biotecnologie Mediche e CEINGE-Biotecnologie avanzate s.c.a.r.l., Via Sergio Pansini, 5-80131 Napoli, Italy, , , , ,

    Antonella Carsana

  4. Department of Anaesthesia, University of Vienna, Waehringerguertel 18-20 AKH-EO9I, 1080 Vienna, Austria, , , , ,

    Hermann Gilly

  5. Department of Intensive Care, University Hospital Antwerp, Wilrijkstraat 10, 2650 Edegem, Belgium, , , , ,

    Luc Heytens

  6. MH Unit, Department of Anaesthesia, University Hospital, 221 85 Lund, Sweden, , , , ,

    Gunilla Islander

  7. Department of Applied Physiology, University of Ulm, 89081 Ulm, Germany, , , , ,

    Karin Jurkat-Rott

  8. Department of Human Genetics, University of Würzburg, Biozentrum, Am Hubland, 97074 Würzburg, Germany, , , , ,

    Clemens Müller

Authors
  1. Rachel Robinson
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  2. Philip Hopkins
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  3. Antonella Carsana
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  4. Hermann Gilly
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  5. Jane Halsall
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  6. Luc Heytens
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  7. Gunilla Islander
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  8. Karin Jurkat-Rott
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  9. Clemens Müller
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  10. Marie-Anne Shaw
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Robinson, R., Hopkins, P., Carsana, A. et al. Several interacting genes influence the malignant hyperthermia phenotype. Hum Genet 112, 217–218 (2003). https://doi.org/10.1007/s00439-002-0864-6

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  • DOI: https://doi.org/10.1007/s00439-002-0864-6

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