{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:24:33Z","timestamp":1791329073399,"version":"4.3.1"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2000,9,1]],"date-time":"2000-09-01T00:00:00Z","timestamp":967766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2000,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2010stage 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 <jats:italic>cytb<\/jats:italic>, tRNA<jats:sup>Arg<\/jats:sup>, and <jats:italic>ND5<\/jats:italic> 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.<\/jats:p>","DOI":"10.1023\/a:1005638231195","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T23:07:17Z","timestamp":1040512037000},"page":"625-633","source":"Crossref","is-referenced-by-count":28,"title":["Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children"],"prefix":"10.1002","volume":"23","author":[{"given":"J.","family":"Marin\u2010Garcia","sequence":"first","affiliation":[{"name":"The Molecular Cardiology Institute  Highland Park New Jersey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Ananthakrishnan","sequence":"additional","affiliation":[{"name":"The Molecular Cardiology Institute  Highland Park New Jersey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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