FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2083330268> ?p ?o ?g. }

• W2083330268 endingPage "348" @default.
• W2083330268 startingPage "342" @default.
• W2083330268 abstract "Malignant hyperthermia (MH) is a condition that manifests in susceptible individuals only on exposure to certain anaesthetic agents. Although genetically heterogeneous, mutations in the RYR1 gene (19q13.1) are associated with the majority of reported MH cases. Guidelines for the genetic diagnosis for MH susceptibility have recently been introduced by the European MH Group (EMHG). These are designed to supplement the muscle biopsy testing procedure, the in vitro contracture test (IVCT), which has been the only means of patient screening for the last 30 years and which remains the method for definitive diagnosis in suspected probands. Discordance observed in some families between IVCT phenotype and susceptibility locus genotype could limit the confidence in genetic diagnosis. We have therefore assessed the prevalence of 15 RYR1 mutations currently used in the genetic diagnosis of MH in a sample of over 500 unrelated European MH susceptible individuals and have recorded the frequency of RYR1 genotype/IVCT phenotype discordance. RYR1 mutations were detected in up to approximately 30% of families investigated. Phenotype/genotype discordance in a single individual was observed in 10 out of 196 mutation-positive families. In five families a mutation-positive/IVCT-negative individual was observed, and in the other five families a mutation-negative/IVCT-positive individual was observed. These data represent the most comprehensive assessment of RYR1 mutation prevalence and genotype/phenotype correlation analysis and highlight the possible limitations of MH screening methods. The implications for genetic diagnosis are discussed." @default.
• W2083330268 created "2016-06-24" @default.
• W2083330268 creator A5005171481 @default.
• W2083330268 creator A5005342278 @default.
• W2083330268 creator A5008365766 @default.
• W2083330268 creator A5010119665 @default.
• W2083330268 creator A5014161284 @default.
• W2083330268 creator A5020143180 @default.
• W2083330268 creator A5027098549 @default.
• W2083330268 creator A5027517883 @default.
• W2083330268 creator A5032711058 @default.
• W2083330268 creator A5038783797 @default.
• W2083330268 creator A5039278773 @default.
• W2083330268 creator A5040341992 @default.
• W2083330268 creator A5058023232 @default.
• W2083330268 creator A5065310897 @default.
• W2083330268 creator A5066557116 @default.
• W2083330268 creator A5070137231 @default.
• W2083330268 creator A5079362350 @default.
• W2083330268 creator A5083518275 @default.
• W2083330268 creator A5083529985 @default.
• W2083330268 creator A5087975439 @default.
• W2083330268 creator A5090322200 @default.
• W2083330268 date "2003-04-01" @default.
• W2083330268 modified "2023-10-10" @default.
• W2083330268 title "Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?" @default.
• W2083330268 cites W1971983860 @default.
• W2083330268 cites W1977700475 @default.
• W2083330268 cites W1981753053 @default.
• W2083330268 cites W2000559906 @default.
• W2083330268 cites W2001331591 @default.
• W2083330268 cites W2003907635 @default.
• W2083330268 cites W2005123575 @default.
• W2083330268 cites W2011925231 @default.
• W2083330268 cites W2018417695 @default.
• W2083330268 cites W2044296073 @default.
• W2083330268 cites W2048551240 @default.
• W2083330268 cites W2051023487 @default.
• W2083330268 cites W2052133214 @default.
• W2083330268 cites W2054761365 @default.
• W2083330268 cites W2069273838 @default.
• W2083330268 cites W2076458772 @default.
• W2083330268 cites W2089115225 @default.
• W2083330268 cites W2091248625 @default.
• W2083330268 cites W2091517601 @default.
• W2083330268 cites W2099307066 @default.
• W2083330268 cites W2141014986 @default.
• W2083330268 cites W2141309071 @default.
• W2083330268 cites W2141547153 @default.
• W2083330268 cites W2150763524 @default.
• W2083330268 cites W2153379369 @default.
• W2083330268 cites W2165628926 @default.
• W2083330268 cites W2166746083 @default.
• W2083330268 cites W2167604030 @default.
• W2083330268 cites W4248197639 @default.
• W2083330268 cites W4250986048 @default.
• W2083330268 cites W4320801362 @default.
• W2083330268 cites W4323874117 @default.
• W2083330268 doi "https://doi.org/10.1038/sj.ejhg.5200964" @default.
• W2083330268 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12700608" @default.
• W2083330268 hasPublicationYear "2003" @default.
• W2083330268 type Work @default.
• W2083330268 sameAs 2083330268 @default.
• W2083330268 citedByCount "91" @default.
• W2083330268 countsByYear W20833302682012 @default.
• W2083330268 countsByYear W20833302682013 @default.
• W2083330268 countsByYear W20833302682014 @default.
• W2083330268 countsByYear W20833302682015 @default.
• W2083330268 countsByYear W20833302682016 @default.
• W2083330268 countsByYear W20833302682017 @default.
• W2083330268 countsByYear W20833302682018 @default.
• W2083330268 countsByYear W20833302682019 @default.
• W2083330268 countsByYear W20833302682020 @default.
• W2083330268 countsByYear W20833302682021 @default.
• W2083330268 crossrefType "journal-article" @default.
• W2083330268 hasAuthorship W2083330268A5005171481 @default.
• W2083330268 hasAuthorship W2083330268A5005342278 @default.
• W2083330268 hasAuthorship W2083330268A5008365766 @default.
• W2083330268 hasAuthorship W2083330268A5010119665 @default.
• W2083330268 hasAuthorship W2083330268A5014161284 @default.
• W2083330268 hasAuthorship W2083330268A5020143180 @default.
• W2083330268 hasAuthorship W2083330268A5027098549 @default.
• W2083330268 hasAuthorship W2083330268A5027517883 @default.
• W2083330268 hasAuthorship W2083330268A5032711058 @default.
• W2083330268 hasAuthorship W2083330268A5038783797 @default.
• W2083330268 hasAuthorship W2083330268A5039278773 @default.
• W2083330268 hasAuthorship W2083330268A5040341992 @default.
• W2083330268 hasAuthorship W2083330268A5058023232 @default.
• W2083330268 hasAuthorship W2083330268A5065310897 @default.
• W2083330268 hasAuthorship W2083330268A5066557116 @default.
• W2083330268 hasAuthorship W2083330268A5070137231 @default.
• W2083330268 hasAuthorship W2083330268A5079362350 @default.
• W2083330268 hasAuthorship W2083330268A5083518275 @default.
• W2083330268 hasAuthorship W2083330268A5083529985 @default.
• W2083330268 hasAuthorship W2083330268A5087975439 @default.
• W2083330268 hasAuthorship W2083330268A5090322200 @default.
• W2083330268 hasBestOaLocation W20833302681 @default.
• W2083330268 hasConcept C104317684 @default.

• next