Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia

Autor:	Ivana Schröderová, Dagmar Stepankova, Edita Ostadalova, Iveta Valášková, Jana Necasova, Renata Gaillyová, Martina Vanaskova, Silvie Dudová, Petr Kuglík
Rok vydání:	2013
Předmět:	RYR1 Genetics Mutation Article Subject Ryanodine receptor Malignant hyperthermia Skeletal muscle Biology musculoskeletal system medicine.disease_cause medicine.disease Phenotype medicine.anatomical_structure medicine Cancer research tissues Gene Novel mutation
Zdroj:	ISRN Genetics. 2013:1-3
ISSN:	2090-8687
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89e4072d6712f22c7136a64704764367 https://doi.org/10.5402/2013/481757 Zobrazit plný text záznamu