Linked Life Data

8788376

Source:http://linkedlifedata.com/resource/pubmed/id/8788376

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1996-11-21
pubmed:abstractText
A 55-year-old man had been previously admitted at the age of 44 because of chest pain on effort. He was diagnosed as hypertrophic obstructive cardiomyopathy with a left ventricular outflow pressure gradient of 65 mmHg. We analyzed the cardiac beta-myosin heavy chain gene in this patient using polymerase chain reaction-single strand conformation polymorphism analysis (PCR-SSCP analysis). PCR-SSCP analysis revealed a sequence variation within exon 16. A G-to-A transversion with replacement of Val by Met at codon 606 was confirmed by sequencing analysis. Previously, a 606Val-->Met mutation has been reported to give a benign prognosis because of the neutral charge substitution. However, there have been some premature deaths in this patient's kindred. Thus, despite the absence of a change in charge, this mutation may be malignant in some kindreds.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0047-1828
pubmed:author
pubmed:issnType
Print
pubmed:volume
59
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
833-7
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy.
pubmed:affiliation
Department of Medicine III, Osaka University Medical School, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't