{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:01:41Z","timestamp":1791219701529,"version":"4.1.0"},"reference-count":52,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2002,6,1]],"date-time":"2002-06-01T00:00:00Z","timestamp":1022889600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4066,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2002,6]]},"DOI":"10.1086\/340608","type":"journal-article","created":{"date-parts":[[2002,9,30]],"date-time":"2002-09-30T17:28:29Z","timestamp":1033406909000},"page":"1446-1458","source":"Crossref","is-referenced-by-count":146,"title":["Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy"],"prefix":"10.1016","volume":"70","author":[{"given":"Ercan","family":"Demir","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Sabatelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Allamand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Ferreiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Behzad","family":"Moghadaszadeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Makrelouf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haluk","family":"Topaloglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Echenne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciano","family":"Merlini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Guicheney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/340608_bib2","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1093\/hmg\/6.5.747","article-title":"Mild congenital muscular dystrophy in two patients with an internally deleted laminin \u03b12-chain","volume":"6","author":"Allamand","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/340608_bib3","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1006\/excr.1996.0328","article-title":"Collagen VI regulates normal and transformed mesenchymal cell proliferation in vitro","volume":"228","author":"Atkinson","year":"1996","journal-title":"Exp Cell Res"},{"key":"10.1086\/340608_bib4","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1093\/hmg\/7.13.2135","article-title":"Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy","volume":"7","author":"Bonaldo","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/340608_bib5","doi-asserted-by":"crossref","first-page":"20235","DOI":"10.1016\/S0021-9258(19)47052-X","article-title":"The carboxyl terminus of the chicken alpha 3 chain of collagen VI is a unique mosaic structure with glycoprotein Ib-like, fibronectin type III, and Kunitz modules","volume":"264","author":"Bonaldo","year":"1989","journal-title":"J Biol Chem"},{"key":"10.1086\/340608_bib6","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1086\/302775","article-title":"Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42","volume":"66","author":"Brockington","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1086\/340608_bib7","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1086\/302011","article-title":"Comprehensive human genetic maps: individual and sex-specific variation in recombination","volume":"63","author":"Broman","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/340608_bib8","doi-asserted-by":"crossref","first-page":"7516","DOI":"10.1073\/pnas.121027598","article-title":"Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI","volume":"98","author":"Camecho Vanegas","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/340608_bib9","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1042\/bj2690175","article-title":"Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro","volume":"269","author":"Chan","year":"1990","journal-title":"Biochem J"},{"key":"10.1086\/340608_bib10","doi-asserted-by":"crossref","first-page":"18601","DOI":"10.1016\/S0021-9258(18)37327-7","article-title":"Amino acid sequence of the triple-helical domain of human collagen type VI","volume":"263","author":"Chu","year":"1988","journal-title":"J Biol Chem"},{"key":"10.1086\/340608_bib11","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/j.1460-2075.1990.tb08122.x","article-title":"Mosaic structure of globular domains in the human type VI collagen \u03b13 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors","volume":"9","author":"Chu","year":"1990","journal-title":"EMBO J"},{"key":"10.1086\/340608_bib12","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1086\/302206","article-title":"Assignment of the muscle-eye-brain disease gene to 1p32-34 by linkage analysis and homozygosity mapping","volume":"64","author":"Cormand","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1086\/340608_bib13","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1007\/BF00314406","article-title":"Ullrich's congenital atonic sclerotic muscular dystrophy: a case report","volume":"236","author":"De Paillette","year":"1989","journal-title":"J Neurol"},{"key":"10.1086\/340608_bib14","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1093\/brain\/124.4.698","article-title":"Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping","volume":"124","author":"Di Blasi","year":"2001","journal-title":"Brain"},{"key":"10.1086\/340608_bib15","first-page":"539","article-title":"50th ENMC International workshop: congenital muscular dystrophy, 28 February 1997 to 2 March 1997, Naarden, The Netherlands","volume":"7","author":"Dubowitz","year":"1997","journal-title":"Neuromusc Disord"},{"key":"10.1086\/340608_bib16","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1042\/bj2110303","article-title":"Electron-microscopical approach to a structural model of intima collagen","volume":"211","author":"Furthmayr","year":"1983","journal-title":"Biochem J"},{"key":"10.1086\/340608_bib17","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1136\/jmg.35.3.211","article-title":"PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy","volume":"35","author":"Guicheney","year":"1998","journal-title":"J Med Genet"},{"key":"10.1086\/340608_bib18","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/ng1095-216","article-title":"Mutations in the laminin \u03b12-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy","volume":"11","author":"Helbling-Leclerc","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/340608_bib19","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/ana.1120","article-title":"Frameshift mutation in the collagen VI gene causes Ullrich's disease","volume":"50","author":"Higuchi","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1086\/340608_bib20","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1002\/ana.109","article-title":"Collagen VI deficiency in Ullrich's disease","volume":"49","author":"Higuchi","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1086\/340608_bib21","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/ng0996-113","article-title":"Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures","volume":"14","author":"J\u00f6bsis","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/340608_bib22","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1083\/jcb.107.5.1995","article-title":"Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network","volume":"107","author":"Keene","year":"1988","journal-title":"J Cell Biol"},{"key":"10.1086\/340608_bib23","doi-asserted-by":"crossref","first-page":"26522","DOI":"10.1074\/jbc.272.42.26522","article-title":"Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen","volume":"272","author":"Kuo","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1086\/340608_bib24","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1093\/hmg\/7.6.981","article-title":"Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency","volume":"7","author":"Lamand\u00e9","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/340608_bib25","doi-asserted-by":"crossref","first-page":"21817","DOI":"10.1074\/jbc.274.31.21817","article-title":"Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion","volume":"274","author":"Lamand\u00e9","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1086\/340608_bib26","doi-asserted-by":"crossref","first-page":"7423","DOI":"10.1074\/jbc.273.13.7423","article-title":"The role of the \u03b13(VI) chain in collagen VI assembly. Expression of an \u03b13(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an \u03b13(VI)-deficient cell line","volume":"273","author":"Lamand\u00e9","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1086\/340608_bib27","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/(SICI)1097-4644(199608)62:2<227::AID-JCB11>3.0.CO;2-I","article-title":"Extracellular matrix is required for skeletal muscle differentiation but not myogenin expression","volume":"62","author":"Melo","year":"1996","journal-title":"J Cell Biochem"},{"key":"10.1086\/340608_bib28","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/0960-8966(94)90091-4","article-title":"Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families","volume":"4","author":"Merlini","year":"1994","journal-title":"Neuromuscul Disord"},{"key":"10.1086\/340608_bib29","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/S0960-8966(99)00022-X","article-title":"Decreased expression of laminin \u03b21 in chromosome 21-linked Bethlem myopathy","volume":"9","author":"Merlini","year":"1999","journal-title":"Neuromuscul Disord"},{"key":"10.1086\/340608_bib30","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/S0960-8966(99)00051-6","article-title":"Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome","volume":"9","author":"Moghadaszadeh","year":"1999","journal-title":"Neuromusc Disord"},{"key":"10.1086\/340608_bib31","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0378-1119(94)90567-3","article-title":"Construction of a novel database containing aberrant splicing mutations of mammalian genes","volume":"141","author":"Nakai","year":"1994","journal-title":"Gene"},{"key":"10.1086\/340608_bib32","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1055\/s-2008-1059651","article-title":"A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy)","volume":"12","author":"Nonaka","year":"1981","journal-title":"Neuropediatrics"},{"key":"10.1086\/340608_bib33","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1042\/bj2110295","article-title":"Structural diversity and domain composition of a unique collagenous fragment (intima collagen) obtained from human placenta","volume":"211","author":"Odermatt","year":"1983","journal-title":"Biochem J"},{"key":"10.1086\/340608_bib34","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1093\/hmg\/7.5.807","article-title":"Missense mutation in a von Willebrand factor type A domain of the \u03b13(VI) collagen gene (COL6A3) in a family with Bethlem myopathy","volume":"7","author":"Pan","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.1086\/340608_bib35","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1159\/000022808","article-title":"CA repeat polymorphism of the COL6A3 gene on chromosome 2q37","volume":"48","author":"Pan","year":"1998","journal-title":"Hum Hered"},{"key":"10.1086\/340608_bib36","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/S0960-8966(99)00014-0","article-title":"A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy: a diagnostic approach in the mutations' screening of type VI collagen","volume":"9","author":"Pepe","year":"1999","journal-title":"Neuromuscul Disord"},{"key":"10.1086\/340608_bib37","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1006\/bbrc.1999.0680","article-title":"A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the \u03b11(VI) collagen chain in an Italian family affected by Bethlem myopathy","volume":"258","author":"Pepe","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/340608_bib38","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1002\/ajmg.1320310428","article-title":"Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs","volume":"31","author":"Ricci","year":"1988","journal-title":"Am J Med Genet"},{"key":"10.1086\/340608_bib39","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1006\/excr.1999.4540","article-title":"Soluble collagen VI induces tyrosine phosphorylation of paxillin and focal adhesion kinase and activates the MAP kinase erk2 in fibroblasts","volume":"250","author":"Ruhl","year":"1999","journal-title":"Exp Cell Res"},{"key":"10.1086\/340608_bib40","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/S0945-053X(01)00160-3","article-title":"Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts","volume":"20","author":"Sabatelli","year":"2001","journal-title":"Matrix Biology"},{"key":"10.1086\/340608_bib41","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1096\/fasebj.14.5.761","article-title":"A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen \u03b13(VI) chain interferes with protein folding","volume":"14","author":"Sasaki","year":"2000","journal-title":"FASEB J"},{"key":"10.1086\/340608_bib42","doi-asserted-by":"crossref","first-page":"4281","DOI":"10.1002\/j.1460-2075.1992.tb05527.x","article-title":"Structure of recombinant N-terminal globule of type VI collagen alpha 3 chain and its binding to heparin and hyaluronan","volume":"11","author":"Specks","year":"1992","journal-title":"EMBO J"},{"key":"10.1086\/340608_bib43","doi-asserted-by":"crossref","first-page":"8626","DOI":"10.1016\/S0021-9258(18)93020-6","article-title":"Human \u03b13(VI) collagen gene. Characterization of exons coding for the amino-terminal globular domain and alternative splicing in normal and tumor cells","volume":"266","author":"Stokes","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1086\/340608_bib44","doi-asserted-by":"crossref","first-page":"10769","DOI":"10.1074\/jbc.272.16.10769","article-title":"The membrane-spanning proteoglycan NG2 binds to collagen V and VI through the central nonglobular domain of its core protein","volume":"272","author":"Tillet","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1086\/340608_bib45","series-title":"Extracellular matrix assembly and structure","first-page":"207","article-title":"Microfibrillar collagen type VI","author":"Timpl","year":"1994"},{"key":"10.1086\/340608_bib46","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1055\/s-2007-973461","article-title":"The saga of congenital muscular dystrophy","volume":"30","author":"Tom\u00e9","year":"1999","journal-title":"Neuropediatrics"},{"key":"10.1086\/340608_bib47","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/BF02864097","article-title":"Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiteres Typus der heredodegenerativen Erkrankungen des neuromuskul\u00e4ren Systems","volume":"126","author":"Ullrich","year":"1930","journal-title":"Z Gesamte Neurol Psychiat"},{"key":"10.1086\/340608_bib48","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/S1383-5742(98)00010-6","article-title":"The association of non sense codons with exon skipping","volume":"411","author":"Valentine","year":"1998","journal-title":"Mutation Research"},{"key":"10.1086\/340608_bib49","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/1765","article-title":"A missense mutation in the aB-crystallin chaperone gene causes a desmin-related myopathy","volume":"20","author":"Vicart","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/340608_bib50","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S0387-7604(97)00094-6","article-title":"Congenital muscular dystrophies: 1997 update","volume":"20","author":"Voit","year":"1998","journal-title":"Brain Dev"},{"key":"10.1086\/340608_bib51","series-title":"Disorders of voluntary muscle","first-page":"503","article-title":"Congenital muscular dystrophies","author":"Voit","year":"2001"},{"key":"10.1086\/340608_bib52","first-page":"715","article-title":"Laminin abnormality in severe childhood autosomal recessive muscular dystrophy","volume":"72","author":"Yamada","year":"1995","journal-title":"Laboratory Investigation"},{"key":"10.1086\/340608_bib53","doi-asserted-by":"crossref","first-page":"24082","DOI":"10.1016\/S0021-9258(18)35949-0","article-title":"The human type VI collagen gene. mRNA and protein variants of the alpha 3 chain generated by alternative splicing of an additional 5-end exon","volume":"267","author":"Zanussi","year":"1992","journal-title":"J Biol Chem"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707606971?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707606971?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T08:53:36Z","timestamp":1622192016000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707606971"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6]]},"references-count":52,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2002,6]]}},"alternative-id":["S0002929707606971"],"URL":"https:\/\/doi.org\/10.1086\/340608","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,6]]}}}