| pubmed-article:11032337 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11032337 | lifeskim:mentions | umls-concept:C0021289 | lld:lifeskim |
| pubmed-article:11032337 | lifeskim:mentions | umls-concept:C0008059 | lld:lifeskim |
| pubmed-article:11032337 | lifeskim:mentions | umls-concept:C0205474 | lld:lifeskim |
| pubmed-article:11032337 | lifeskim:mentions | umls-concept:C0878544 | lld:lifeskim |
| pubmed-article:11032337 | lifeskim:mentions | umls-concept:C0521451 | lld:lifeskim |
| pubmed-article:11032337 | lifeskim:mentions | umls-concept:C1853126 | lld:lifeskim |
| pubmed-article:11032337 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:11032337 | pubmed:dateCreated | 2001-1-17 | lld:pubmed |
| pubmed-article:11032337 | pubmed:abstractText | Defects in myocardial bioenergetics have been reported in patients with cardiomyopathy but their molecular basis and role in pathophysiology remain unclear. We sought to establish a molecular basis for cardiac mitochondrial respiratory enzyme abnormalities frequently present (75%) in a group of 16 children (including 2 neonates) with end-stage cardiomyopathy. Decreased specific activity levels were found in complexes I, III, IV and V but not in II, the only complex that is entirely nuclear encoded. Sequence analysis of cardiac mtDNA revealed 4 patients harbouring heteroplasmic mtDNA mutations in cytb, tRNAArg, and ND5 at highly conserved positions. These mutations were present neither in controls nor in patients without enzymatic defect. In addition, 4 patients exhibited marked reduction in cardiac mtDNA levels. The basis for respiratory enzyme abnormalities can be explained in a subset of our patients as a result of either pathogenic mtDNA mutation or depletion. Patients harbouring both DNA and enzymatic defects fulfil rigorous criteria defining mitochondrial cardiomyopathy. | lld:pubmed |
| pubmed-article:11032337 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11032337 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:11032337 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11032337 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11032337 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:11032337 | pubmed:issn | 0141-8955 | lld:pubmed |
| pubmed-article:11032337 | pubmed:author | pubmed-author:Ananthakrishn... | lld:pubmed |
| pubmed-article:11032337 | pubmed:author | pubmed-author:Marin-GarciaJ... | lld:pubmed |
| pubmed-article:11032337 | pubmed:author | pubmed-author:PierpontM EME | lld:pubmed |
| pubmed-article:11032337 | pubmed:author | pubmed-author:GoldenthalM... | lld:pubmed |
| pubmed-article:11032337 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11032337 | pubmed:volume | 23 | lld:pubmed |
| pubmed-article:11032337 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11032337 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11032337 | pubmed:pagination | 625-33 | lld:pubmed |
| pubmed-article:11032337 | pubmed:dateRevised | 2007-3-21 | lld:pubmed |
| pubmed-article:11032337 | pubmed:meshHeading | pubmed-meshheading:11032337... | lld:pubmed |
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| pubmed-article:11032337 | pubmed:meshHeading | pubmed-meshheading:11032337... | lld:pubmed |
| pubmed-article:11032337 | pubmed:meshHeading | pubmed-meshheading:11032337... | lld:pubmed |
| pubmed-article:11032337 | pubmed:meshHeading | pubmed-meshheading:11032337... | lld:pubmed |
| pubmed-article:11032337 | pubmed:meshHeading | pubmed-meshheading:11032337... | lld:pubmed |
| pubmed-article:11032337 | pubmed:meshHeading | pubmed-meshheading:11032337... | lld:pubmed |
| pubmed-article:11032337 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:11032337 | pubmed:articleTitle | Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. | lld:pubmed |
| pubmed-article:11032337 | pubmed:affiliation | The Molecular Cardiology Institute, Highland Park, New Jersey 08904, USA. tmci@worldnet.att.net | lld:pubmed |
| pubmed-article:11032337 | pubmed:publicationType | Journal Article | lld:pubmed |
