English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background The type 1 ryanodine receptor (RYR1) is expressed in human skeletal muscle and plays a key role in calcium homeostasis. Most patients with malignant hyperthermia (MH) have mutations in the RYR1 gene. Today, the gold standard for MH diagnosis is an invasive open muscle biopsy followed by the in-vitro-contracture-test (IVCT). Less invasive diagnosis using molecular genetic methods is of increasing importance, but knowledge about genetic variants in RYR1 is limited. The European MH Group (EMHG) RYR1 mutation database is not up-to-date and lacks information on a significant number of more recently identified variants or further knowledge on variants already in the database. Therefore, the need for an update in order to expand the use of molecular genetic testing is required. The aim of this study was to collect information about variants in the RYR1 gene and their functional effect. Finally this information will be imported into the EMHG RYR1 mutation database. Materials and methods PubMed was used for data collection. For the search, the three keywords “Malignant Hyperthermia”, “Mutation” and “Ryanodine Receptor Calcium Release Channel” were used; the operator was “AND”. Publication dates from the beginning of 2006 to the end of 2012 were selected. However, some older and newer studies were also included if they seemed important for the gain of information. Additionally, the considered papers had to be relevant for the human species. The software EndNote X7 (Thomson Reuters, Carlsbad, CA, USA) was used for administration of references and data was collected and processed in Microsoft Excel for Mac 2011 (Microsoft Corporation, Redmont, WA, USA).

Update of the EMHG database on genetic variants in type 1 ryanodine receptor and their possible impact on phenotype