Linked Life Data

18684293

Source:http://linkedlifedata.com/resource/pubmed/id/18684293

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2008-8-7
pubmed:abstractText
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon heritable disease presenting with syncope or sudden cardiac death. Two genes involved in calcium homeostasis, the ryanodine receptor gene and the calsequestrin 2 (CASQ2) gene, have been implicated in this disease. We describe a young man presenting with exercise-induced syncope, clinically diagnosed as CPVT. Genetic analysis revealed two mutations, p.Y55C (c.164A>G) and p.P308L (c.923C>T), in the CASQ2 gene. Subsequent familial analysis indicates a compound heterozygous form of inheritance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
1540-8159
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
916-9
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
A case of catecholaminergic polymorphic ventricular tachycardia caused by two calsequestrin 2 mutations.
pubmed:affiliation
Department of Cardiology, Catharina Hospital Eindhoven, Eindhoven, the Netherlands. sdelafuente@hotmail.com
pubmed:publicationType
Journal Article, Case Reports