{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T04:06:07Z","timestamp":1792037167518,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,2,7]],"date-time":"2013-02-07T00:00:00Z","timestamp":1360195200000},"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":[[2013,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The distal arthrogryposis (DA) syndromes are a group of disorders characterized by non\u2010progressive congenital contractures of the limbs. Mutations that cause distal arthrogryposis syndromes have been reported in six genes, each of which encodes a component of the contractile apparatus of skeletal myofibers. However, these reports have usually emanated from gene discovery efforts and thus potentially bias estimates of the frequency of pathogenic mutations at each locus. We characterized the spectrum of pathogenic variants in a cohort of 153 cases of DA1 (n\u2009=\u200948) and DA2B (n\u2009=\u2009105). Disease\u2010causing mutations in 56\/153 (37%) kindreds including 14\/48 (29%) with DA1 and 42\/105 (40%) with DA2B were distributed nearly equally across\n                    <jats:italic>TNNI2<\/jats:italic>\n                    ,\n                    <jats:italic>TNNT3<\/jats:italic>\n                    ,\n                    <jats:italic>TPM2<\/jats:italic>\n                    , and\n                    <jats:italic>MYH3<\/jats:italic>\n                    . In\n                    <jats:italic>TNNI2<\/jats:italic>\n                    ,\n                    <jats:italic>TNNT3<\/jats:italic>\n                    , and\n                    <jats:italic>TPM2<\/jats:italic>\n                    the same mutation caused DA1 in some families and DA2B in others. We found no significant differences among the clinical characteristics of DA by locus or between each locus and DA1 or DA2B. Collectively, the substantial overlap between phenotypic characteristics and spectrum of mutations suggests that DA1 and DA2B should be considered phenotypic extremes of the same disorder. \u00a9 2013 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.35809","type":"journal-article","created":{"date-parts":[[2013,2,7]],"date-time":"2013-02-07T21:31:02Z","timestamp":1360272662000},"page":"550-555","source":"Crossref","is-referenced-by-count":68,"title":["Spectrum of mutations that cause distal arthrogryposis types 1 and 2B"],"prefix":"10.1002","volume":"161","author":[{"given":"Anita E.","family":"Beck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret J.","family":"McMillin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi I.S.","family":"Gildersleeve","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip R.","family":"Kezele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn M.","family":"Shively","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Regnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Bamshad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,2,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.J.02004"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0183-4"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000230168.05328.f4"},{"key":"e_1_2_6_7_1","first-page":"426","article-title":"A variant of Freeman\u2010Sheldon syndrome maps to 11p15.5\u2010pter","volume":"60","author":"Krakowiak PA","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO;2-K"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.06.003"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/368294"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/376418"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000256339.40667.fb"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.8.1083"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1775"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa040584"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.03.002"}],"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.35809","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35809","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T09:11:39Z","timestamp":1697620299000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,7]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1002\/ajmg.a.35809"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35809","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,7]]}}}