{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T16:49:25Z","timestamp":1790009365891,"version":"4.0.1"},"reference-count":23,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2001,7,1]],"date-time":"2001-07-01T00:00:00Z","timestamp":993945600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2001,7]]},"abstract":"<jats:p>\n                    We describe a 5-year-old child with hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis. Mitochondrial DNA analysis showed a heteroplasmic A5814G point mutation in the tRNA\n                    <jats:sup>Cys<\/jats:sup>\n                    gene. The mutational load was extremely high (&gt;95%) in muscle, fibroblasts, and blood. This report expands the clinical heterogeneity of the A5814G mutation, which should be considered in the differential diagnosis of hypertrophic cardiomyopathy in childhood. (J Child Neurol 2001;16:531-533).\n                  <\/jats:p>","DOI":"10.1177\/088307380101600715","type":"journal-article","created":{"date-parts":[[2008,3,31]],"date-time":"2008-03-31T18:40:10Z","timestamp":1206988810000},"page":"531-533","source":"Crossref","is-referenced-by-count":18,"title":["A5814G Mutation in Mitochondrial DNA Can Cause Mitochondrial Myopathy and Cardiomyopathy"],"prefix":"10.1177","volume":"16","author":[{"given":"Charalampos","family":"Karadimas","sequence":"first","affiliation":[{"name":"Department of Neurology Columbia University College of Physicians and Surgeons New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kurenai","family":"Tanji","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University College of Physicians and Surgeons New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maciej","family":"Geremek","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University College of Physicians and Surgeons New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope","family":"Chronopoulou","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University College of Physicians and Surgeons New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuan","family":"Vu","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University College of Physicians and Surgeons New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sindu","family":"Krishna","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University College of Physicians and Surgeons New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn M.","family":"Sue","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University College of Physicians and Surgeons New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Shanske","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University College of Physicians and Surgeons New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Bonilla","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University College of Physicians and Surgeons New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"DiMauro","sequence":"additional","affiliation":[{"name":"Department of Neurology Columbia University College of Physicians and Surgeons New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Lipson","sequence":"additional","affiliation":[{"name":"The Permanente Medical Group Inc Oakland, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald","family":"Bachman","sequence":"additional","affiliation":[{"name":"The Permanente Medical Group Inc Oakland, California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2001,7,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2000.tb00275.x"},{"key":"atypb2","first-page":"190","volume":"13","author":"DiMauro S.","year":"1998","journal-title":"Curr Opin Cardiol"},{"key":"atypb3","doi-asserted-by":"crossref","unstructured":"Sciacco M., Bonilla E.: Cytochemistry and immunochemistry of mitochondria in tissue sections, in Attardi GM, Chomyn A (eds): Methods in Enzymology, Vol. 264. 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