{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T06:31:24Z","timestamp":1773297084979,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,22]],"date-time":"2013-05-22T00:00:00Z","timestamp":1369180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Myotonic dystrophy type 1 is an autosomal dominant condition caused by a trinucleotide CTG repeat expansion in the 3\u2032 untranslated region of the dystrophia myotonica protein kinase gene. The phenotypic features of myopathic facies, generalized weakness, and myotonia are thought to be dependent on repeat number, with larger expansions generally leading to earlier and\/or more severe disease. The vast majority of individuals are heterozygous for an expanded allele and an allele in the normal range. In this clinical report, we describe two brothers with congenital myotonic dystrophy type 1. The younger of the two siblings is one of only 13 homozygous patients ever reported in the literature. He carries two expanded alleles: one with 1,170 repeats and the other with &gt;100 repeats. We present his clinical picture in relation to his more severely affected heterozygous brother as well as other published homozygous cases. Finally, we discuss the inconsistency between repeat size and symptomatic expression as it applies to the current proposed mechanisms of myotonic dystrophy type 1 pathogenicity. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35967","type":"journal-article","created":{"date-parts":[[2013,5,22]],"date-time":"2013-05-22T23:13:02Z","timestamp":1369264382000},"page":"1763-1767","source":"Crossref","is-referenced-by-count":4,"title":["Two is better than one: A case of homozygous myotonic dystrophy type 1"],"prefix":"10.1002","volume":"161","author":[{"given":"Jillian M.","family":"Carroll","sequence":"first","affiliation":[{"name":"Indiana University Genetic Counseling Program Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly A.","family":"Quaid","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristyne","family":"Stone","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Indiana University School of Medicine Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renee","family":"Jones","sequence":"additional","affiliation":[{"name":"Ariosa Diagnostics Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Schubert","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Indiana University School of Medicine Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher B.","family":"Griffith","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis, Indiana"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,5,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10304"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.e40"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI5346"},{"key":"e_1_2_5_5_1","volume-title":"GeneReviews\u2122 [Internet]","author":"Bird TD","year":"1993"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808314965"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.6.711"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0796-316"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2008.05.005"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/75490"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0371281"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.9.783"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5364.737"},{"key":"e_1_2_5_14_1","first-page":"3952","article-title":"Correction of ClC\u20101 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy","volume":"117","author":"Wheeler TM","year":"2007","journal-title":"J Clin Invest"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31772"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35967","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35967","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:52:59Z","timestamp":1697615579000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35967"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,22]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["10.1002\/ajmg.a.35967"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35967","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,22]]}}}