{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T06:55:16Z","timestamp":1778223316364,"version":"3.51.4"},"reference-count":17,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2000,6,1]],"date-time":"2000-06-01T00:00:00Z","timestamp":959817600000},"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":[[2000,6]]},"abstract":"<jats:p>\n                    We report a family with a heterogeneous group of neurologic disorders associated with the mitochondrial DNA G8363A transfer ribonucleic acid (RNA)\n                    <jats:sup>Lys<\/jats:sup>\n                    mutation. The phenotype of one child in the family was consistent with autism. During his second year of life, he lost previously acquired language skills and developed marked hyperactivity with toe-walking, abnormal reciprocal social interaction, stereotyped mannerisms, restricted interests, self-injurious behavior, and seizures. Brain magnetic resonance imaging (MRI) and repeated serum lactate studies were normal. His older sister developed signs of Leigh syndrome with progressive ataxia, myoclonus, seizures, and cognitive regression. Her laboratory studies revealed increased MRI T\n                    <jats:sub>2<\/jats:sub>\n                    -weighted signal in the putamen and posterior medulla, elevated lactate in serum and cerebrospinal fluid, and absence of cytochrome c oxidase staining in muscle histochemistry. Molecular analysis in her revealed the G8363A mutation of the mitochondrial transfer RNA\n                    <jats:sup>Lys<\/jats:sup>\n                    gene in blood (82% mutant mitochondrial DNA) and muscle (86%). The proportions of mutant mitochondrial DNA from her brother with autism were lower (blood 60%, muscle 61%). It is likely that the origin of his autism phenotype is the pathogenic G8363A mitochondrial DNA mutation. This observation suggests that certain mitochondrial point mutations could be the basis for autism in some individuals. ( J Child Neurol 2000;15:357-361).\n                  <\/jats:p>","DOI":"10.1177\/088307380001500601","type":"journal-article","created":{"date-parts":[[2008,1,24]],"date-time":"2008-01-24T19:24:33Z","timestamp":1201202673000},"page":"357-361","source":"Crossref","is-referenced-by-count":126,"title":["Autism Associated With the Mitochondrial DNA G8363A Transfer RNALys Mutation"],"prefix":"10.1177","volume":"15","author":[{"given":"William D.","family":"Graf","sequence":"first","affiliation":[{"name":"Departments of Pediatrics and Neurology, University of Washington Seattle, WA,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose","family":"Marin-Garcia","sequence":"additional","affiliation":[{"name":"Molecular Cardiology Institute, Inc Highland Park, NJ"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.G.","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of California San Diego, La Jolla, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senia","family":"Pizzo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of California San Diego, La Jolla, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert K.","family":"Naviaux","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of California San Diego, La Jolla, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Markusic","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of California San Diego, La Jolla, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruce A.","family":"Barshop","sequence":"additional","affiliation":[{"name":"Department of Medicine University of California San Diego, La Jolla, CA, Department of Pediatrics, University of California San Diego, La Jolla, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Courchesne","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of California San Diego, La Jolla, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard H.","family":"Haas","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of California San Diego, La Jolla, CA, Department of Medicine University of California San Diego, La Jolla, CA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2000,6,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199707103370206"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)09218-0"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1086\/515485"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-979735"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370604"},{"key":"atypb6","first-page":"2826","volume":"82","author":"Smith ML","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(91)91900-W"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1126\/science.8209254"},{"key":"atypb9","first-page":"928","volume":"60","author":"Cook EH","year":"1997","journal-title":"Am J Hum Genet"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980401)76:4<327::AID-AJMG8>3.0.CO;2-M"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.8.1694"},{"key":"atypb12","doi-asserted-by":"crossref","unstructured":"Courchesne E., Yeung-Courchesne R., Pierce K.: Biological and behavioral heterogeneity in autism: Role of pleiotropy and epigenesis, in Broman S, Fletcher J (eds): The Changing Nervous System: Neurobehavioral Consequences of Early Brain Disorders. 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