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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2001-2-22
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pubmed:abstractText |
Familial polymorphic ventricular tachycardia is an autosomal-dominant, inherited disease with a relatively early onset and a mortality rate of approximately 30% by the age of 30 years. Phenotypically, it is characterized by salvoes of bidirectional and polymorphic ventricular tachycardias in response to vigorous exercise, with no structural evidence of myocardial disease. We previously mapped the causative gene to chromosome 1q42-q43. In the present study, we demonstrate that patients with familial polymorphic ventricular tachycardia have missense mutations in the cardiac sarcoplasmic reticulum calcium release channel (ryanodine receptor type 2 [RyR2]).
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1524-4539
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pubmed:author |
pubmed-author:BrahmbhattBB,
pubmed-author:BrownK MKM,
pubmed-author:DevaneyJ MJM,
pubmed-author:DonarumE AEA,
pubmed-author:KontulaKK,
pubmed-author:LaitinenP JPJ,
pubmed-author:MariniGG,
pubmed-author:PiippoKK,
pubmed-author:StephanD ADA,
pubmed-author:SwanHH,
pubmed-author:TisoNN,
pubmed-author:ToivonenLL,
pubmed-author:ViitasaloMM
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pubmed:issnType |
Electronic
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pubmed:day |
30
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pubmed:volume |
103
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
485-90
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11157710-Base Sequence,
pubmed-meshheading:11157710-Chromosome Mapping,
pubmed-meshheading:11157710-Chromosomes, Human, Pair 1,
pubmed-meshheading:11157710-DNA,
pubmed-meshheading:11157710-DNA Mutational Analysis,
pubmed-meshheading:11157710-Family Health,
pubmed-meshheading:11157710-Female,
pubmed-meshheading:11157710-Finland,
pubmed-meshheading:11157710-Haplotypes,
pubmed-meshheading:11157710-Humans,
pubmed-meshheading:11157710-Male,
pubmed-meshheading:11157710-Microsatellite Repeats,
pubmed-meshheading:11157710-Mutation,
pubmed-meshheading:11157710-Mutation, Missense,
pubmed-meshheading:11157710-Myocardium,
pubmed-meshheading:11157710-Pedigree,
pubmed-meshheading:11157710-Polymorphism, Genetic,
pubmed-meshheading:11157710-Ryanodine Receptor Calcium Release Channel,
pubmed-meshheading:11157710-Tachycardia, Ventricular
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pubmed:year |
2001
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pubmed:articleTitle |
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.
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pubmed:affiliation |
Department of Medicine, University of Helsinki, Helsinki, Finland.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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