{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T01:16:00Z","timestamp":1771463760766,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2898,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1996,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ten laminin \u03b12\u2010deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin \u03b12\u2010deficient patients were carrying a diagnonsis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10 merosin\u2010deficient patients were homogeneous, with severe floppiness at birth, delay in achievement of motor milestones, and magnetic resonance imaging findings of white matter changes with normal intelligence. The 10\u2010kb laminin \u03b12\u2010coding sequence was screened for causative mutations by reverse transcriptase\u2010polymerase chain reaction\/single\u2010stranded confronmational polymorphism analysis in muscle biopys specimens from 5 patients, followed by automatic sequencing of aberrant conformers. Clear loss\u2010of\u2010function deletion mutations were identified in both alleles of 1 patient. Muscle histopahtology in this patient showed a striking inflammatory infiltrate of T cells and B cells. REexaminatin of biopys specimens from other laminin \u03b12\u2010deficient patients showed minor signs of inflammation in each. Based on these findings and the histological and clinical picture suggesting failure of muscle regeneration, a pathogenesis model for this major subswt of congenital muscular dystrophy is proposed. Our data show that muscle histopatholgoy showing a neonatal inflammatory process shold be considered consistent with congenital muscular dystrophy.<\/jats:p>","DOI":"10.1002\/ana.410400515","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:52:41Z","timestamp":1104591161000},"page":"782-791","source":"Crossref","is-referenced-by-count":105,"title":["Congenital muscular dystrophy with primary laminin \u03b12 (merosin) deficiency presenting as inflammatory myopathy"],"prefix":"10.1002","volume":"40","author":[{"given":"Elena","family":"Pegoraro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brad Di","family":"Cianno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric P.","family":"Hoffman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Mancias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven H.","family":"Swerdlow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radmila B.","family":"Raikow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harold","family":"Marks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Crawford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"Carver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_1_2","volume-title":"A colour atlas of muscle disorders in childhood","author":"Dubowitz V.","year":"1989"},{"key":"e_1_2_1_2_2","first-page":"1275","volume-title":"Myology","author":"Banker BQ.","year":"1994"},{"key":"e_1_2_1_3_2","first-page":"5","article-title":"A peculiar form of congential progressive muscular dystrophy","volume":"4","author":"Fukuyama Y","year":"1960","journal-title":"Pediatr Univ Tokyo"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(81)80002-2"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1193-283"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091594"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091594"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320213"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(80)80039-8"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880060113"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(86)90023-8"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(86)80083-3"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.7.1111"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(82)90171-X"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/338259a0"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90035-W"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/355696a0"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(92)81265-N"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.18.8307"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90344-5"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.9.3264"},{"key":"e_1_2_1_22_2","doi-asserted-by":"crossref","first-page":"9933","DOI":"10.1016\/S0021-9258(19)83607-4","article-title":"Laminin a glycoprotein from absement membranes","volume":"254","author":"Timpl R","year":"1979","journal-title":"J Biol Chem"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1981.tb05593.x"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.124.3.381"},{"key":"e_1_2_1_25_2","first-page":"351","article-title":"Congenital muscular dystrophy with merosin deficiency","volume":"317","author":"Tom\u00e9 FMS","year":"1994","journal-title":"C R Acad Sci Paris"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.9.1657"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-216"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90579-4"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.8.1011"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.4.677"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00709a025"},{"key":"e_1_2_1_33_2","doi-asserted-by":"crossref","first-page":"18563","DOI":"10.1016\/S0021-9258(17)32346-3","article-title":"Pathophysiology of sodium channelopathies: studies of sodium channel expressin by quantitative multiplex fluroescence polymerase chain reaction","volume":"269","author":"Zhou J","year":"1994","journal-title":"J Biol Chem"},{"key":"e_1_2_1_34_2","unstructured":"DugganDJ FaninM PegoraroE et al. Adhalinopathies: complete biochemical deficiency patients are 5% of childhood\u2010onset dystrophin\u2010normal muscular dystrophy and most partial deficiency patients do not have gene mutations.J Neurol Sci(in press)"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0394-299"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.111.4.1685"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1993.2"},{"key":"e_1_2_1_38_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.5.1544"},{"key":"e_1_2_1_39_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02388749"},{"key":"e_1_2_1_40_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.1.10.731"},{"key":"e_1_2_1_41_2","first-page":"495","article-title":"MR imaging of the brain in five members of a family with Paelizeus\u2010Merzbacher disease","volume":"11","author":"Silverstein AM","year":"1990","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_1_42_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307389501000610"},{"key":"e_1_2_1_43_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198605293142219"},{"key":"e_1_2_1_44_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780340321"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410400515","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410400515","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T15:55:08Z","timestamp":1698335708000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410400515"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,11]]},"references-count":44,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1996,11]]}},"alternative-id":["10.1002\/ana.410400515"],"URL":"https:\/\/doi.org\/10.1002\/ana.410400515","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,11]]}}}