Linked Life Data

1806760

Source:http://linkedlifedata.com/resource/pubmed/id/1806760

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1992-5-11
pubmed:abstractText
Familial Hypertrophic Cardiomyopathy (FHC) is a genetically inherited disorder of heart muscle. Over the past 40 years many studies have been done to describe in detail the clinical presentation of this disease and its associated pathophysiological consequences. The primary focus of this review is to discuss more recent studies involving the genetic mapping of one locus on chromosome 14, which causes FHC, and then to summarize studies demonstrating that this locus contains mutations in the cardiac myosin heavy chain genes. The chromosomal location of other putative FHC loci will also be considered. Finally, the implications of results that demonstrate that cardiac myosin heavy chain defects produce the pathophysiology of FHC will be considered from both clinical and basic research perspectives.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0735-1313
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
159-66
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Mutations in cardiac myosin heavy chain genes cause familial hypertrophic cardiomyopathy.
pubmed:affiliation
Cardiovascular Division, Brigham and Women's Hospital, Boston, MA 02115.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't