{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T17:48:47Z","timestamp":1785606527444,"version":"3.56.0"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T00:00:00Z","timestamp":1614124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100003975","name":"Myotonic Dystrophy Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003975","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K08NS097631"],"award-info":[{"award-number":["K08NS097631"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K23NS091511"],"award-info":[{"award-number":["K23NS091511"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R21NS100040"],"award-info":[{"award-number":["R21NS100040"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the\n                      <jats:italic>DMPK<\/jats:italic>\n                      gene and is the most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs and symptoms are often nonspecific and overlapping with other disorders. Clinical genetic testing by Southern blot or triplet\u2010primed PCR (TP\u2010PCR) is technically challenging and cost prohibitive for population surveys.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Here, we present a high throughput, low\u2010cost screening tool for CTG repeat expansions using TP\u2010PCR followed by high resolution melt curve analysis with saturating concentrations of SYBR GreenER dye.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We determined that multimodal melt profiles from the TP\u2010PCR assay are a proxy for amplicon length stoichiometry. In a screen of 10,097 newborn blood spots, melt profile analysis accurately reflected the tri\u2010modal distribution of common alleles from 5 to 35 CTG repeats, and identified the premutation and full expansion alleles.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We demonstrate that robust detection of expanded CTG repeats in a single tube can be achieved from samples derived from specimens with minimal template DNA such as dried blood spots (DBS). This technique is readily adaptable to large\u2010scale testing programs such as population studies and newborn screening programs.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1619","type":"journal-article","created":{"date-parts":[[2021,2,24]],"date-time":"2021-02-24T06:24:12Z","timestamp":1614147852000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8452-7189","authenticated-orcid":false,"given":"Russell J.","family":"Butterfield","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Utah Salt Lake City Utah USA"},{"name":"Department of Neurology University of Utah Salt Lake City Utah 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University of Utah Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia L.","family":"Feldkamp","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas E.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Neurology Virginia Commonwealth University Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert B.","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Utah Salt Lake City Utah 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