{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T16:41:23Z","timestamp":1773420083295,"version":"3.50.1"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2007,4,14]],"date-time":"2007-04-14T00:00:00Z","timestamp":1176508800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/2.0"},{"start":{"date-parts":[[2007,4,14]],"date-time":"2007-04-14T00:00:00Z","timestamp":1176508800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/2.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2007,7]]},"DOI":"10.1007\/s00439-007-0362-y","type":"journal-article","created":{"date-parts":[[2007,4,18]],"date-time":"2007-04-18T13:45:26Z","timestamp":1176903926000},"page":"685-690","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":115,"title":["Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome"],"prefix":"10.1007","volume":"121","author":[{"given":"Jeroen","family":"van Reeuwijk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prabhjit K.","family":"Grewal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa A. M.","family":"Salih","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Beltr\u00e1n-Valero de Bernab\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jenny M.","family":"McLaughlan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline B.","family":"Michielse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Herrmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane E.","family":"Hewitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice","family":"Steinbrecher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed Z.","family":"Seidahmed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed M.","family":"Shaheed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdullah","family":"Abomelha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han G.","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"van Bokhoven","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Voit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2007,4,14]]},"reference":[{"key":"362_CR1","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1093\/nar\/28.2.605","volume":"28","author":"JA Armour","year":"2000","unstructured":"Armour JA, Sismani C, Patsalis PC, Cross G (2000) Measurement of locus copy number by hybridisation with amplifiable probes. Nucleic Acids Res 28:605\u2013609","journal-title":"Nucleic Acids Res"},{"key":"362_CR2","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/j.nmd.2005.01.013","volume":"15","author":"B Balci","year":"2005","unstructured":"Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H (2005) An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord 15:271\u2013275","journal-title":"Neuromuscul Disord"},{"key":"362_CR3","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1242\/jcs.02814","volume":"119","author":"R Barresi","year":"2006","unstructured":"Barresi R, Campbell KP (2006) Dystroglycan: from biosynthesis to pathogenesis of human disease. J Cell Sci 119:199\u2013207","journal-title":"J Cell Sci"},{"key":"362_CR4","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1038\/nm1059","volume":"10","author":"R Barresi","year":"2004","unstructured":"Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP (2004) LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 10:696\u2013703","journal-title":"Nat Med"},{"key":"362_CR5","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1086\/342975","volume":"71","author":"D Beltr\u00e1n-Valero","year":"2002","unstructured":"Beltr\u00e1n-Valero de Bernab\u00e9 D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der ZB, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG (2002) Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71:1033\u20131043","journal-title":"Am J Hum Genet"},{"key":"362_CR6","doi-asserted-by":"publisher","first-page":"845","DOI":"10.1136\/jmg.40.11.845","volume":"40","author":"D de Beltr\u00e1n-Valero Bernab\u00e9","year":"2003","unstructured":"Beltr\u00e1n-Valero de Bernab\u00e9 D, van Bokhoven H, van Beusekom E, van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG (2003) A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet 40:845\u2013848","journal-title":"J Med Genet"},{"key":"362_CR7","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1093\/hmg\/ddi062","volume":"14","author":"M Brockington","year":"2005","unstructured":"Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, Brown SC, Muntoni F (2005) Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet 14:657\u2013665","journal-title":"Hum Mol Genet"},{"key":"362_CR8","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1016\/j.nmd.2005.01.003","volume":"15","author":"CA Browning","year":"2005","unstructured":"Browning CA, Grewal PK, Moore CJ, Hewitt JE (2005) A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy. Neuromuscul Disord 15:331\u2013335","journal-title":"Neuromuscul Disord"},{"key":"362_CR9","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1038\/nrg1894","volume":"7","author":"HH Freeze","year":"2006","unstructured":"Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7:537\u2013551","journal-title":"Nat Rev Genet"},{"key":"362_CR10","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1038\/88865","volume":"28","author":"PK Grewal","year":"2001","unstructured":"Grewal PK, Holzfeind PJ, Bittner RE, Hewitt JE (2001) Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet 28:151\u2013154","journal-title":"Nat Genet"},{"key":"362_CR11","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1093\/glycob\/cwi094","volume":"15","author":"PK Grewal","year":"2005","unstructured":"Grewal PK, McLaughlan JM, Moore CJ, Browning CA, Hewitt JE (2005) Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. Glycobiology 15:912\u2013923","journal-title":"Glycobiology"},{"key":"362_CR12","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1136\/jmg.39.11.790","volume":"39","author":"EJ Hollox","year":"2002","unstructured":"Hollox EJ, Atia T, Cross G, Parkin T, Armour JA (2002) High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH). J Med Genet 39:790\u2013795","journal-title":"J Med Genet"},{"key":"362_CR13","doi-asserted-by":"publisher","first-page":"2673","DOI":"10.1093\/hmg\/11.21.2673","volume":"11","author":"PJ Holzfeind","year":"2002","unstructured":"Holzfeind PJ, Grewal PK, Reitsamer HA, Kechvar J, Lassmann H, Hoeger H, Hewitt JE, Bittner RE (2002) Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders. Hum Mol Genet 11:2673\u20132687","journal-title":"Hum Mol Genet"},{"key":"362_CR14","doi-asserted-by":"publisher","first-page":"953","DOI":"10.1016\/j.cell.2004.06.003","volume":"117","author":"M Kanagawa","year":"2004","unstructured":"Kanagawa M, Saito F, Kunz S, Yoshida-Moriguchi T, Barresi R, Kobayashi YM, Muschler J, Dumanski JP, Michele DE, Oldstone MB, Campbell KP (2004) Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell 117:953\u2013964","journal-title":"Cell"},{"key":"362_CR15","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1038\/28256","volume":"394","author":"K Kobayashi","year":"1998","unstructured":"Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T (1998) An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394:388\u2013392","journal-title":"Nature"},{"key":"362_CR16","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1016\/j.mcn.2005.07.009","volume":"30","author":"Y Lee","year":"2005","unstructured":"Lee Y, Kameya S, Cox GA, Hsu J, Hicks W, Maddatu TP, Smith RS, Naggert JK, Peachey NS, Nishina PM (2005) Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci 30:160\u2013172","journal-title":"Mol Cell Neurosci"},{"key":"362_CR17","doi-asserted-by":"publisher","first-page":"2853","DOI":"10.1093\/hmg\/ddg307","volume":"12","author":"C Longman","year":"2003","unstructured":"Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F (2003) Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 12:2853\u20132861","journal-title":"Hum Mol Genet"},{"key":"362_CR18","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1093\/whq\/54.4.601","volume":"54","author":"KD Mathews","year":"1995","unstructured":"Mathews KD, Rapisarda D, Bailey HL, Murray JC, Schelper RL, Smith R (1995) Phenotypic and pathologic evaluation of the myd mouse. A candidate model for facioscapulohumeral dystrophy. J Neuropathol Exp Neurol 54:601\u2013606","journal-title":"J Neuropathol Exp Neurol"},{"key":"362_CR19","doi-asserted-by":"crossref","unstructured":"Mercuri E, D\u2019Amico A, Tessa A, Berardinelli A, Pane M, Messina S, van RJ, Bertini E, Muntoni F, Santorelli FM (2006) POMT2 mutation in a patient with \u2018MEB-like\u2019 phenotype. Neuromuscul Disord 16:446\u2013448","DOI":"10.1016\/j.nmd.2006.03.016"},{"key":"362_CR20","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1038\/nature00837","volume":"418","author":"DE Michele","year":"2002","unstructured":"Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP (2002) Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418:417\u2013422","journal-title":"Nature"},{"key":"362_CR21","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1093\/hmg\/ddg043","volume":"12","author":"K Taniguchi","year":"2003","unstructured":"Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T (2003) Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet 12:527\u2013534","journal-title":"Hum Mol Genet"},{"key":"362_CR22","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1111\/j.1399-0004.2004.00368.x","volume":"67","author":"J van Reeuwijk","year":"2005a","unstructured":"van Reeuwijk J, Brunner HG, van Bokhoven H (2005a) Glyc-O-genetics of Walker-Warburg syndrome. Clin Genet 67:281\u2013289","journal-title":"Clin Genet"},{"key":"362_CR23","doi-asserted-by":"publisher","first-page":"907","DOI":"10.1136\/jmg.2005.031963","volume":"42","author":"J van Reeuwijk","year":"2005b","unstructured":"van Reeuwijk J, Janssen M, van den Elzen C, Beltr\u00e1n-Valero de Bernab\u00e9 D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H (2005b) POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 42:907\u2013912","journal-title":"J Med Genet"},{"key":"362_CR24","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1002\/humu.20313","volume":"27","author":"J van Reeuwijk","year":"2006","unstructured":"van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H (2006) The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat 27:453\u2013459","journal-title":"Hum Mutat"},{"key":"362_CR25","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1016\/S1534-5807(01)00070-3","volume":"1","author":"A Yoshida","year":"2001","unstructured":"Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T (2001) Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 1:717\u2013724","journal-title":"Dev Cell"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-007-0362-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-007-0362-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-007-0362-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-007-0362-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T17:18:44Z","timestamp":1630430324000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-007-0362-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,14]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,7]]}},"alternative-id":["362"],"URL":"https:\/\/doi.org\/10.1007\/s00439-007-0362-y","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,4,14]]},"assertion":[{"value":"22 February 2007","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 March 2007","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 April 2007","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}