Linked Life Data

20395683

Source:http://linkedlifedata.com/resource/pubmed/id/20395683

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-4-30
pubmed:abstractText
Mutations in the cardiac sodium channel encoded by the gene SCN5A can result in a wide array of phenotypes. We report a case of a young male with a novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia. His father carried the same mutation, but had a milder phenotype, presenting with progressive cardiac conduction later in life. The mutation was found to result in a loss-of-function in the sodium current. In conclusion, the same SCN5A mutation can result in a wide array of clinical phenotypes and perhaps the spectrum of SCN5A loss-of-function associated disease entities should be viewed as one syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1421-9751
pubmed:author
pubmed:copyrightInfo
Copyright (c) 2010 S. Karger AG, Basel.
pubmed:issnType
Electronic
pubmed:volume
115
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
311-6
pubmed:dateRevised
2011-7-22
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation.
pubmed:affiliation
Danish National Research Foundation Centre for Cardiac Arrhythmia, University of Copenhagen, Blegdamsvej 9, Copenhagen, Denmark. anders@kanten.dk
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't