{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T17:11:55Z","timestamp":1768929115419,"version":"3.49.0"},"reference-count":2,"publisher":"S. Karger AG","issue":"1-2","license":[{"start":{"date-parts":[[2000,10,30]],"date-time":"2000-10-30T00:00:00Z","timestamp":972864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2000,10,30]],"date-time":"2000-10-30T00:00:00Z","timestamp":972864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Hered"],"published-print":{"date-parts":[[2001]]},"abstract":"<jats:p>Mitochondrial DNA (mtDNA) defects are associated with a number of human disorders. Although many occur sporadically, maternal transmission is the hallmark of diseases due to mtDNA point mutations. The same mutation may manifest strikingly different phenotypes; for example, the A to G substitution at np 3243 was first reported in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (the MELAS syndrome), but is also found in patients with diabetes and deafness. Here we present a case of gestational diabetes, deafness, premature greying, placenta accreta and Wolff-Parkinson-White (WPW) syndrome associated with a mtDNA mutation. Although this is the first report of such an association, study of 27 other patients with WPW syndrome failed to confirm that this mtDNA mutation is a common cause of such pre-excitation disorders.<\/jats:p>","DOI":"10.1159\/000022950","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T17:26:45Z","timestamp":1050427605000},"page":"114-116","source":"Crossref","is-referenced-by-count":26,"title":["Identification of mtDNA Mutation in a Pedigree with Gestational Diabetes, Deafness, Wolff-Parkinson-White Syndrome and Placenta accreta"],"prefix":"10.1159","volume":"51","author":[{"given":"P.","family":"Aggarwal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Gill-Randall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Wheatley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.B.","family":"Buchalter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Metcalfe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.C.","family":"Alcolado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2000,10,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/348651a0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s001250050119"}],"container-title":["Human Heredity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/22950","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/22950","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:48:26Z","timestamp":1745470106000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000022950"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,10,30]]},"references-count":2,"journal-issue":{"issue":"1-2","published-online":{"date-parts":[[2000,10,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000022950","archive":["Portico"],"relation":{},"ISSN":["0001-5652","1423-0062"],"issn-type":[{"value":"0001-5652","type":"print"},{"value":"1423-0062","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,10,30]]}}}