{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:44:03Z","timestamp":1791852243424,"version":"4.3.4"},"reference-count":49,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,9,6]],"date-time":"2007-09-06T00:00:00Z","timestamp":1189036800000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2007,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We studied the prevalence, segregation, and phenotype of the mitochondrial DNA 3243A&gt;G mutation in children in a defined population in Northern Ostrobothnia, Finland.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Children with diagnoses commonly associated with mitochondrial diseases were ascertained. Blood DNA from 522 selected children was analyzed for 3243A&gt;G. Children with the mutation were clinically examined. Information on health history before the age of 18 years was collected from previously identified adult patients with 3243A&gt;G. Mutation segregation analysis in buccal epithelial cells was performed in mothers with 3243A&gt;G and their children whose samples were analyzed anonymously.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eighteen children were found to harbor 3243A&gt;G in a population of 97,609. A minimum estimate for the prevalence of 3243A&gt;G was 18.4 in 100,000 (95% confidence interval, 10.9\u201329.1\/100,000). Information on health in childhood was obtained from 37 adult patients with 3243A&gt;G. The first clinical manifestations appearing in childhood were sensorineural hearing impairment, short stature or delayed maturation, migraine, learning difficulties, and exercise intolerance. Mutation analysis from 13 mothers with 3243A&gt;G and their 41 children gave a segregation rate of 0.80. The mothers with heteroplasmy greater than 50% tended to have offspring with lower or equal heteroplasmy, whereas the opposite was true for mothers with heteroplasmy less than or equal to 50% (<jats:italic>p<\/jats:italic> = 0.0016).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>The prevalence of 3243A&gt;G is relatively high in the pediatric population, but the morbidity in children is relatively low. The random genetic drift model may be inappropriate for the transmission of the 3243A&gt;G mutation. 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