{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:06:53Z","timestamp":1791032813303,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"24","license":[{"start":{"date-parts":[[2006,11,13]],"date-time":"2006-11-13T00:00:00Z","timestamp":1163376000000},"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":[[2006,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The distal arthrogryposis (DA) syndromes are a distinct group of disorders characterized by contractures of two or more different body areas. More than a decade ago, we revised the classification of DAs and distinguished several new syndromes. This revision has facilitated the identification of five genes (i.e., <jats:italic>TNNI2, TNNT3, MYH3, MYH8<\/jats:italic>, and <jats:italic>TPM2<\/jats:italic>) that encode components of the contractile apparatus of fast\u2010twitch myofibers and cause DA syndromes. We now report on the phenotypic features of a novel DA disorder characterized primarily by plantar flexion contractures in a large five\u2010generation Utah family. Contractures of hips, elbows, wrists, and fingers were much milder though they varied in severity among affected individuals. All affected individuals had normal neurological examinations; electromyography and creatinine kinase levels were normal on selected individuals. We have tentatively labeled this condition distal arthrogryposis type 10 (DA10). \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31528","type":"journal-article","created":{"date-parts":[[2006,11,14]],"date-time":"2006-11-14T02:16:53Z","timestamp":1163470613000},"page":"2797-2801","source":"Crossref","is-referenced-by-count":18,"title":["A new distal arthrogryposis syndrome characterized by plantar flexion contractures"],"prefix":"10.1002","volume":"140A","author":[{"given":"D.A.","family":"Stevenson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.J.","family":"Swoboda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.K.","family":"Sanders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Bamshad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,11,13]]},"reference":[{"key":"e_1_2_5_2_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_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0730-725X(96)00236-6"},{"key":"e_1_2_5_4_1","first-page":"989","volume-title":"Principles and practice of medical genetics. 2nd edition","author":"Hall JG","year":"1992"},{"key":"e_1_2_5_5_1","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1302\/0301-620X.49B4.695","article-title":"Congenital short tendo calcaneus","volume":"49","author":"Hall JE","year":"1967","journal-title":"J Bone Joint Surg Br"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110208"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200744"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/122.4.649"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.3.815"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1973.04160060062014"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh338"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2353040403"},{"key":"e_1_2_5_13_1","first-page":"1375","article-title":"MR appearance of trigeminal and hypoglossal motor denervation","volume":"18","author":"Russo C","year":"1997","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10385"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004694-199805000-00003"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/368294"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/376418"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1775"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa040584"}],"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.31528","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31528","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:03:05Z","timestamp":1697670185000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31528"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,11,13]]},"references-count":18,"journal-issue":{"issue":"24","published-print":{"date-parts":[[2006,12,15]]}},"alternative-id":["10.1002\/ajmg.a.31528"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31528","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,11,13]]}}}