{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T19:37:37Z","timestamp":1767901057513,"version":"3.49.0"},"reference-count":17,"publisher":"Spandidos Publications","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,11]]},"DOI":"10.3892\/etm.2013.1271","type":"journal-article","created":{"date-parts":[[2013,8,23]],"date-time":"2013-08-23T09:54:21Z","timestamp":1377251661000},"page":"1233-1236","source":"Crossref","is-referenced-by-count":10,"title":["Merosin-deficient congenital muscular dystrophy type 1A: A case report"],"prefix":"10.3892","volume":"6","author":[{"given":"ZHANWEN","family":"HE","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"XIANGYANG","family":"LUO","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LIYANG","family":"LIANG","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"PINGGAN","family":"LI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"DONGFANG","family":"LI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MENG","family":"ZHE","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2013,8,23]]},"reference":[{"key":"key20180108131913_b1-etm-06-05-1233","first-page":"691","article-title":"Basic reactions of muscle","volume-title":"Myology: Basic and Clinical","author":"Banker","year":"2004","edition":"3rd edition"},{"key":"key20180108131913_b2-etm-06-05-1233","first-page":"351","article-title":"Congenital muscular dystrophy with merosin deficiency","volume":"317","author":"Tom\u00e9","year":"1994","journal-title":"C R Acad Sci III"},{"key":"key20180108131913_b3-etm-06-05-1233","first-page":"918","article-title":"Diagnosis of congenital muscular dystrophy and clinical significance of merosin expression","volume":"44","author":"Xiong","year":"2006","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"key20180108131913_b4-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"665","DOI":"10.2340\/16501977-0235","article-title":"Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy","volume":"40","author":"Paternostro-Sluga","year":"2008","journal-title":"J Rehabil Med"},{"key":"key20180108131913_b5-etm-06-05-1233","first-page":"1203","article-title":"The congenital muscular dystrophies","volume-title":"Myology: Basic and Clinical","author":"Voit","year":"2004","edition":"3rd edition"},{"key":"key20180108131913_b6-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/BF02185752","article-title":"Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy","volume":"97","author":"Mostacciuolo","year":"1996","journal-title":"Hum Genet"},{"key":"key20180108131913_b7-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1136\/jmg.38.10.649","article-title":"The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review","volume":"38","author":"Jones","year":"2001","journal-title":"J Med Genet"},{"key":"key20180108131913_b8-etm-06-05-1233","article-title":"Congenital Muscular Dystrophy Overview","volume-title":"GeneReviews\u2122 [Internet]","author":"Sparks","year":"2001"},{"key":"key20180108131913_b9-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1002\/mus.10326","article-title":"Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy","volume":"27","author":"Di Muzio","year":"2003","journal-title":"Muscle Nerve"},{"key":"key20180108131913_b10-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/0960-8966(94)00069-L","article-title":"Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle","volume":"5","author":"Philpot","year":"1995","journal-title":"Neuromusc Disord"},{"key":"key20180108131913_b11-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.braindev.2006.10.004","article-title":"MR spectroscopy and diffusion tensor imaging of the brain in congenital muscular dystrophy with merosin deficiency: metabolite level decreases, fractional anisotropy decreases, and apparent diffusion coefficient increases in the white matter","volume":"29","author":"Sijens","year":"2007","journal-title":"Brain Dev"},{"key":"key20180108131913_b12-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.braindev.2006.11.003","article-title":"Quantitative proton MRS of cerebral metabolites in laminin alpha2 chain deficiency","volume":"29","author":"Brockmann","year":"2007","journal-title":"Brain Dev"},{"key":"key20180108131913_b13-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"2084","DOI":"10.1212\/WNL.45.11.2084","article-title":"Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities","volume":"45","author":"Sunada","year":"1995","journal-title":"Neurology"},{"key":"key20180108131913_b14-etm-06-05-1233","first-page":"11","article-title":"Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis","volume":"52","author":"Fardeau","year":"1996","journal-title":"Rev Neurol (Paris)"},{"key":"key20180108131913_b15-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/ng1095-216","article-title":"Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy","volume":"11","author":"Helbling-Leclerc","year":"1995","journal-title":"Nat Genet"},{"key":"key20180108131913_b16-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/0945-053X(94)90184-8","article-title":"A new nomenclature for the laminins","volume":"14","author":"Burgeson","year":"1994","journal-title":"Matrix Biol"},{"key":"key20180108131913_b17-etm-06-05-1233","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1001\/archneur.62.10.1582","article-title":"LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect","volume":"62","author":"Di Blasi","year":"2005","journal-title":"Arch Neurol"}],"container-title":["Experimental and Therapeutic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/etm.2013.1271\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,1,8]],"date-time":"2018-01-08T23:13:31Z","timestamp":1515453211000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/etm.2013.1271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,23]]},"references-count":17,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2013,8,23]]},"published-print":{"date-parts":[[2013,11]]}},"alternative-id":["10.3892\/etm.2013.1271"],"URL":"https:\/\/doi.org\/10.3892\/etm.2013.1271","relation":{},"ISSN":["1792-0981","1792-1015"],"issn-type":[{"value":"1792-0981","type":"print"},{"value":"1792-1015","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,23]]}}}