{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T17:07:36Z","timestamp":1764781656436},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4509,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recently an unstable trinucleotide CTG repeat, located within the 3\u2032 untranslated region of a gene on 19q13.3 was discovered in kindreds with myotonic dystrophy (DM). The age\u2010of\u2010onset\/severity of DM shows a good correlation with CTG repeat size, and pedigrees and data reported to date have shown a striking trend toward amplification of the size of the CTG repeat during transmission from parent to child. The amplification has been accepted as the biological explanation for anticipation in the clinical severity observed in many families with DM.<\/jats:p><jats:p>In this paper we report on 3 families where CTG amplification decreased during transmission from parent to child. In one case there was a gene conversion event, while in the remaining 2 there was a simpler reduction in the size of the repeat length. The changes appear to have been accompanied by a reduction in clinical severity in the child when compared to the parent. These observations are discussed in terms of their clinical implications and the biases that may exist in much of the reported data. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450330","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:22:10Z","timestamp":1118506930000},"page":"401-407","source":"Crossref","is-referenced-by-count":26,"title":["Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counselling and genetic anticipation"],"prefix":"10.1002","volume":"45","author":[{"given":"Alasdair G. W.","family":"Hunter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Jacob","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"O'Hoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabrielle","family":"Mettler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Tsilfidis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert G","family":"Korneluk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/355548a0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90154-5"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/355547a0"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1546326"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/355545a0"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)90729-M"},{"key":"e_1_2_1_8_1","first-page":"10","article-title":"Anticipation in myotonic dystrophy: New light on an old problem","volume":"51","author":"Harper PS","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/112.3.779"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.11.774"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1546325"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.5.839"},{"key":"e_1_2_1_13_1","unstructured":"O'HoyKM TsilfidisC MahadevanMS NevilleCE Barcel\u00f3J HunterAGW KornelukRG(1992)Reversal of myotonic dystrophy correlated with loss of mutation Submitted to Science with revisions."},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1947.tb02384.x"},{"key":"e_1_2_1_15_1","first-page":"7","article-title":"Invited editorial: Anticipation legitimized: Unstable DNA to the rescue","volume":"51","author":"Sutherland GS","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","first-page":"961","article-title":"D19S51 is closely linked with and maps distal to the myotonic locus on 19q","volume":"49","author":"Tsilfidis C","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","unstructured":"WierengaB(1992)DM Consortium Workshop Cardiff Wales."}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450330","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450330","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T23:01:31Z","timestamp":1698188491000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450330"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,2]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1993,2]]}},"alternative-id":["10.1002\/ajmg.1320450330"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450330","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,2]]}}}