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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
1997-11-6
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pubmed:abstractText |
Abnormalities in specific mitochondrial respiratory enzymes and DNA (mtDNA) have been reported in cardiomyopathy. In this study, we report 4 cases of severe hypertrophic cardiomyopathy (HCM) in which specific cardiac mitochondrial enzyme activity defects were found, including complex I (n = 2), complex III (n = 2), complex IV (n = 2) and complex V (n = 1). Other abnormalities were also noted including a marked depletion of mtDNA (n = 1) and decreased content of subunit 2 of cytochrome c oxidase (n = 1). None of the mtDNA point mutations and common deletions previously found in association with cardiomyopathy were detected in these patients. These data indicate that specific respiratory enzyme activity defects are frequently present in HCM. Also, our finding of a marked depletion of mtDNA in 1 patient suggests that cardiac mtDNA depletion, previously unreported in HCM, needs further examination in order to establish whether it plays a primary role in its pathogenesis.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Sep
|
pubmed:issn |
0141-8955
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
|
pubmed:pagination |
674-80
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pubmed:dateRevised |
2007-3-21
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pubmed:meshHeading |
pubmed-meshheading:9323562-Cardiomyopathy, Hypertrophic,
pubmed-meshheading:9323562-Child, Preschool,
pubmed-meshheading:9323562-DNA, Mitochondrial,
pubmed-meshheading:9323562-Female,
pubmed-meshheading:9323562-Gene Deletion,
pubmed-meshheading:9323562-Humans,
pubmed-meshheading:9323562-Infant,
pubmed-meshheading:9323562-Infant, Newborn,
pubmed-meshheading:9323562-Male,
pubmed-meshheading:9323562-Mitochondria, Heart,
pubmed-meshheading:9323562-Mutation
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pubmed:year |
1997
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pubmed:articleTitle |
Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy.
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pubmed:affiliation |
Molecular Cardiology Institute, Highland Park, New Jersey 08904, USA.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|