Linked Life Data

16930012

Source:http://linkedlifedata.com/resource/pubmed/id/16930012

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PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2006-8-25
pubmed:abstractText
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disease characterized by adrenergic-induced arrhythmias in the form of bidirectional and PVT. CPVT is a distinct clinical entity associated with a high mortality rate of up to 50% by the age of 30 yr. Recently, the molecular diagnostics of this disease have become increasingly important because underlying mutations can be found in more than 60% of the identified CPVT patients. Along with the fact that treatment with beta-blockers has a favorable outcome in CPVT patients, and given the risk of sudden death, the identification of causative mutations in CPVT is important because it can greatly augment early diagnosis and subsequent preventive strategies. In this chapter, we describe the molecular diagnostics, as performed in our lab, of the three genes known to be involved in CPVT, the cardiac ryanodine receptor gene, the cardiac calsequestrin gene, and the inwardly rectifying potassium channel KCNJ2.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1543-1894
pubmed:author
pubmed:issnType
Print
pubmed:volume
126
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
171-83
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing.
pubmed:affiliation
Experimental and Molecular Cardiology Group, Academic Medical Center, Amsterdam, The Netherlands.
pubmed:publicationType
Journal Article