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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
14
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pubmed:dateCreated |
2008-4-8
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pubmed:abstractText |
Familial hypertrophic cardiomyopathy (FHC) is characterized by genetic and clinical heterogeneity. Five percent of FHC families have 2 FHC-causing mutations, which results in earlier disease onset, increased cardiac dysfunction, and a higher incidence of sudden death events. These observations suggest a relationship between the number of gene mutations and phenotype severity in FHC.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1524-4539
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
8
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pubmed:volume |
117
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1820-31
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pubmed:meshHeading |
pubmed-meshheading:18362229-Animals,
pubmed-meshheading:18362229-Calcium Signaling,
pubmed-meshheading:18362229-Cardiomyopathy, Dilated,
pubmed-meshheading:18362229-Cardiomyopathy, Hypertrophic, Familial,
pubmed-meshheading:18362229-Disease Models, Animal,
pubmed-meshheading:18362229-Disease Progression,
pubmed-meshheading:18362229-Female,
pubmed-meshheading:18362229-Heterozygote,
pubmed-meshheading:18362229-Humans,
pubmed-meshheading:18362229-Male,
pubmed-meshheading:18362229-Mice,
pubmed-meshheading:18362229-Mice, Inbred C57BL,
pubmed-meshheading:18362229-Mice, Mutant Strains,
pubmed-meshheading:18362229-Mutation,
pubmed-meshheading:18362229-Mutation, Missense,
pubmed-meshheading:18362229-Paracrine Communication,
pubmed-meshheading:18362229-Phenotype,
pubmed-meshheading:18362229-Renin-Angiotensin System,
pubmed-meshheading:18362229-STAT3 Transcription Factor,
pubmed-meshheading:18362229-Signal Transduction,
pubmed-meshheading:18362229-Troponin I,
pubmed-meshheading:18362229-Ventricular Myosins
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pubmed:year |
2008
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pubmed:articleTitle |
Severe heart failure and early mortality in a double-mutation mouse model of familial hypertrophic cardiomyopathy.
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pubmed:affiliation |
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Locked Bag 6, Newtown, NSW 2042, Australia.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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