Table of Contents
ISRN Genetics
Volume 2013, Article ID 481757, 3 pages
http://dx.doi.org/10.5402/2013/481757
Research Article

Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia

1Department of Medical Genetics, University Hospital Brno, Cernopolni 9, 613 00 Brno, Czech Republic
2Department of Biology, Faculty of Medicine, Masaryk University, Kamenice 5, 625 00 Brno, Czech Republic
3Clinic of Paediatric Anaesthesiology and Intensive Care, University Hospital Brno, Cernopolni 9, 613 00 Brno, Czech Republic
4Department of Anaesthesiology and Intensive Care, St. Anne’s Faculty Hospital, Pekarska 53, 656 51 Brno, Czech Republic
5Department of Experimental Biology, Masaryk University, Kotlarska 267/2, 611 37 Brno, Czech Republic

Received 27 August 2013; Accepted 1 October 2013

Academic Editors: A. Brehm, A. Wang, and A. Yamamoto

Copyright © 2013 Iveta Valaskova et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of the skeletal muscle and is triggered in susceptible individuals by commonly used inhalation anaesthetics and depolarizing muscle relaxants. Around 80% of the affected family are linked to the ryanodine receptor (RYR1) gene. More than 300 mutations in RYR1 have been associated with the MH-susceptible phenotype. Here we report the identification by two independent methods of a novel mutation associated with the MH-susceptible phenotype in the RYR1 gene.