{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T20:57:13Z","timestamp":1791147433901,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,8,13]],"date-time":"2015-08-13T00:00:00Z","timestamp":1439424000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Muscular dystrophy caused by <jats:italic>LAMA2\u2010<\/jats:italic>gene mutations is an autosomal recessive disease typically presenting as a severe, early\u2010onset congenital muscular dystrophy (CMD). However, milder cases with a limb\u2010girdle type muscular dystrophy (LGMD) have been described. <jats:italic>Methods<\/jats:italic>: In this study, we assessed the frequency and phenotypic spectrum of <jats:italic>LAMA2<\/jats:italic>\u2010related muscular dystrophy in CMD (<jats:italic>n<\/jats:italic>\u2009=\u200918) and LGMD2 (<jats:italic>n<\/jats:italic>\u2009=\u2009128) cohorts identified in the last 15 years in eastern Denmark. The medical history, brain\u2010MRI, muscle pathology, muscle laminin\u2010\u03b12 expression, and genetic analyses were assessed. <jats:italic>Results<\/jats:italic>: Molecular genetics revealed 2 pathogenic <jats:italic>LAMA2<\/jats:italic> mutations in 5 of 18 CMD and 3 of 128 LGMD patients, corresponding to a <jats:italic>LAMA2\u2010<\/jats:italic>mutation frequency of 28% in the CMD and 2.3% in the LGMD cohorts, respectively. <jats:italic>Conclusions<\/jats:italic>: This study demonstrates a wide clinical spectrum of <jats:italic>LAMA2<\/jats:italic>\u2010related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that <jats:italic>LAMA2<\/jats:italic> muscular dystrophy should be included in the LGMD2 nomenclature. <jats:italic>Muscle Nerve<\/jats:italic> 52: 547\u2013553, 2015<\/jats:p>","DOI":"10.1002\/mus.24588","type":"journal-article","created":{"date-parts":[[2015,2,6]],"date-time":"2015-02-06T02:18:00Z","timestamp":1423189080000},"page":"547-553","source":"Crossref","is-referenced-by-count":45,"title":["<i>LAMA2<\/i>\u2010related myopathy: Frequency among congenital and limb\u2010girdle muscular dystrophies"],"prefix":"10.1002","volume":"52","author":[{"given":"Nicoline","family":"L\u00f8kken","sequence":"first","affiliation":[{"name":"Copenhagen Neuromuscular Center section 3342, Righospitalet, Blegdamsvej 9 DK\u20102100 Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfred Peter","family":"Born","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rigshospitalet University of Copenhagen  Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Duno","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Rigshospitalet University of Copenhagen  Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center section 3342, Righospitalet, Blegdamsvej 9 DK\u20102100 Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,8,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.02.001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2013.11.002"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.1.101"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22132"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.10.649"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22196"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M702963200"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2007.07.015"},{"key":"e_1_2_6_10_1","unstructured":"HGMD Human genome mutation database http:\/\/www.hgmd.cf.ac.uk. v.4.2013. 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