{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:04:51Z","timestamp":1791234291654,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,12,15]],"date-time":"2004-12-15T00:00:00Z","timestamp":1103068800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"crossref","award":["DFG, Ki 812\/1-1"],"award-info":[{"award-number":["DFG, Ki 812\/1-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Muscular Dystrophy Campaign of Great Britain and Northern Ireland"},{"name":"The European Community (Myo-Cluster: GENRE grant)","award":["QLG1 CT 1999 00870"],"award-info":[{"award-number":["QLG1 CT 1999 00870"]}]},{"name":"Florence R.C. Murray Fellowship Program and Ethel Brown Foerderer Award at The Children's Hospital of Philadelphia"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,1,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in the three genes coding for the alpha chains of collagen VI and characterized by generalized muscle weakness, striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints, and normal intellectual development. The diagnosis is supported by abnormal immunoreactivity for collagen VI on muscle biopsies. As patients with UCMD show clinical characteristics typical of classical disorders of connective tissue such as Ehlers\u2013Danlos syndromes (EDS), we investigated the ultrastructure of skin biopsy samples from patients with UCMD (n=5). Electron microscopy of skin biopsies revealed ultrastructural abnormalities in all cases, including alterations of collagen fibril morphology (variation in size and composite fibers) and increase in ground substance, which resemble those seen in patients with EDS. Our findings suggest that there is a true connective tissue component as part of the phenotypic spectrum of UCMD and that there is considerable clinical as well as morphological overlap between UCMD and classic connective tissue disorders. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30443","type":"journal-article","created":{"date-parts":[[2004,12,16]],"date-time":"2004-12-16T03:17:27Z","timestamp":1103167047000},"page":"296-301","source":"Crossref","is-referenced-by-count":86,"title":["Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers\u2013Danlos syndromes"],"prefix":"10.1002","volume":"132A","author":[{"given":"Janbernd","family":"Kirschner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Hausser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaqun","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun","family":"Schreiber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans\u2010J\u00fcrgen","family":"Christen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan C.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrun","family":"Anton\u2010Lamprecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Folker","family":"Hanefeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G.","family":"B\u00f6nnemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,12,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwf065"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.64.748.126"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.121027598"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/01913120050132859"},{"key":"e_1_2_6_7_1","first-page":"547","article-title":"Mutations in the COL5A1 gene are causal in the Ehlers\u2013Danlos syndromes I and II","volume":"60","author":"De Paepe A","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/340608"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201664"},{"key":"e_1_2_6_10_1","doi-asserted-by":"crossref","first-page":"3955","DOI":"10.1016\/S0021-9258(17)43189-9","article-title":"Type VI collagen. Studies on its localization, structure, and biosynthetic form with monoclonal antibodies","volume":"259","author":"Hessle H","year":"1984","journal-title":"J Biol Chem"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1120"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1270"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000113023.84421.00"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/122.4.649"},{"key":"e_1_2_6_15_1","first-page":"491","article-title":"Extracellular matrix 1: Fibril\u2010forming collagens","volume":"2","author":"Kadler K","year":"1995","journal-title":"Protein Profile"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471221929.ch2"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI12881"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00068-8"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1059651"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/377107"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00139-6"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0174-173X(88)80019-0"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02864097"},{"key":"e_1_2_6_24_1","first-page":"201","article-title":"Abnormal collagen fibril structure in the gravis form (type I) of Ehlers\u2013Danlos syndrome","volume":"40","author":"Vogel A","year":"1979","journal-title":"Lab Invest"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M304638200"}],"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.30443","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30443","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30443","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T19:40:35Z","timestamp":1697658035000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,15]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,1,30]]}},"alternative-id":["10.1002\/ajmg.a.30443"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30443","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,12,15]]}}}