Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia. (7th November 2013)

• Record Type: Journal Article
• Authors: Valaskova, Iveta; Dudova, Silvie; Necasova, Jana; Ostadalova, Edita; Vanaskova, Martina; Stepankova, Dagmar; Schröderova, Ivana; Gaillyova, Renata; Kuglik, Petr
• Other Names: Brehm A. Academic Editor.; Wang A. Academic Editor.; Yamamoto A. Academic Editor.
• Is Part Of: ISRN genetics. Volume 2013(2013)
• Publication Date: 2013-11-07
• Subjects: Genetics -- Periodicals; Genetics, Medical; Genetics; Periodicals; Periodicals; Fulltext; Internet Resources; Periodicals; Electronic journals; 576.5
• DOI: 10.5402/2013/481757
• Languages: English
• ISSNs: 2090-8687

Abstract

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.