{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T17:09:21Z","timestamp":1792602561732,"version":"4.5.0"},"reference-count":39,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100007458","name":"Qatar Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007458","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2020,6]]},"DOI":"10.1016\/j.nmd.2020.03.009","type":"journal-article","created":{"date-parts":[[2020,4,16]],"date-time":"2020-04-16T21:37:28Z","timestamp":1587073048000},"page":"457-471","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":26,"title":["Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients\u2019 cohort from Qatar. A population specific founder variant"],"prefix":"10.1016","volume":"30","author":[{"given":"Alice","family":"Abdel Aleem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud F.","family":"Elsaid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nader","family":"Chalhoub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almahdi","family":"Chakroun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid A.S.","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rana","family":"AlShami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omer","family":"Kuzu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reem B.","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Ibrahim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noora","family":"AlMudheki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Osman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Elizabeth","family":"Ross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osama","family":"ELalamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2020.03.009_bib0001","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1212\/WNL.51.1.101","article-title":"Laminin alpha2 muscular dystrophy: genotype\/phenotype studies of 22 patients","volume":"51","author":"Pegoraro","year":"1998","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2020.03.009_bib0002","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1055\/s-0037-1604154","article-title":"Congenital muscular dystrophies and myopathies: an overview and update","volume":"48","author":"Schorling","year":"2017","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.nmd.2020.03.009_bib0003","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1212\/WNL.0000000000001416","article-title":"Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy","volume":"84","author":"Kang","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2020.03.009_bib0004","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/0960-8966(94)90051-5","article-title":"22nd ENMC workshop on congenital muscular dystrophy","volume":"4","author":"Dubowitz","year":"1994","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2020.03.009_bib0005","first-page":"1389","article-title":"Neuroimaging manifestations and classification of congenital muscular dystrophies","volume":"19","author":"Barkovich","year":"1998","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.nmd.2020.03.009_bib0006","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1111\/j.1399-0004.2008.01068.x","article-title":"LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients","volume":"74","author":"Oliveira","year":"2008","journal-title":"Clin Genet"},{"key":"10.1016\/j.nmd.2020.03.009_bib0007","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.nmd.2010.02.001","article-title":"Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations","volume":"20","author":"Geranmayeh","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2020.03.009_bib0008","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1002\/humu.23599","article-title":"LAMA2 gene mutation update: toward a more comprehensive picture of the laminin-\u03b12 variome and its related phenotypes","volume":"39","author":"Oliveira","year":"2018","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2020.03.009_bib0009","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1002\/mus.22132","article-title":"Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations","volume":"44","author":"Gavassini","year":"2011","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2020.03.009_bib0010","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":"10.1016\/j.nmd.2020.03.009_bib0011","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.matbio.2018.06.005","article-title":"Extracellular matrix-driven congenital muscular dystrophies","volume":"71-72","author":"Mohassel","year":"2018","journal-title":"Matrix Biol"},{"key":"10.1016\/j.nmd.2020.03.009_bib0012","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/j.matbio.2005.05.006","article-title":"A simplified laminin nomenclature","volume":"24","author":"Aumailley","year":"2005","journal-title":"Matrix Biol"},{"key":"10.1016\/j.nmd.2020.03.009_bib0013","doi-asserted-by":"crossref","first-page":"31525","DOI":"10.1074\/jbc.272.50.31525","article-title":"Self-assembly of laminin isoforms","volume":"272","author":"Cheng","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2020.03.009_bib0014","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.nmd.2017.06.008","article-title":"Congenital muscular dystrophies in the UK population: clinical and molecular spectrum of a large cohort diagnosed over a 12-year period","volume":"27","author":"Sframeli","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2020.03.009_bib0015","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/cge.12366","article-title":"Genotype\/phenotype analysis in Chinese laminin-2 deficient congenital muscular dystrophy patients","volume":"87","author":"Xiong","year":"2015","journal-title":"Clin Genet"},{"key":"10.1016\/j.nmd.2020.03.009_bib0016","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/humu.10157","article-title":"Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency","volume":"21","author":"Tezak","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2020.03.009_bib0017","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/S0960-8966(01)00312-1","article-title":"Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency","volume":"12","author":"Deodato","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2020.03.009_bib0018","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":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2020.03.009_bib0019","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S0960-8966(99)00034-6","article-title":"Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status","volume":"9","author":"Mercuri","year":"1999","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2020.03.009_bib0020","doi-asserted-by":"crossref","first-page":"15260","DOI":"10.1523\/JNEUROSCI.3678-13.2014","article-title":"The extracellular matrix protein laminin \u03b12 regulates the maturation and function of the blood-brain barrier","volume":"34","author":"Menezes","year":"2014","journal-title":"J Neurosci"},{"key":"10.1016\/j.nmd.2020.03.009_bib0021","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.ejpn.2008.01.010","article-title":"LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression","volume":"13","author":"Vigliano","year":"2009","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.nmd.2020.03.009_bib0022","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1177\/088307389801300602","article-title":"Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children","volume":"13","author":"Tsao","year":"1998","journal-title":"J Child Neurol"},{"key":"10.1016\/j.nmd.2020.03.009_bib0023","doi-asserted-by":"crossref","first-page":"3175","DOI":"10.1093\/brain\/awp236","article-title":"Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population","volume":"132","author":"Norwood","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2020.03.009_bib0024","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1212\/WNL.0000000000001303","article-title":"Prevalence of congenital muscular dystrophy in Italy. A population study","volume":"84","author":"Graziano","year":"2015","journal-title":"Neurology."},{"key":"10.1016\/j.nmd.2020.03.009_bib0025","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1097\/01241398-200001000-00016","article-title":"Bone mineral density and fractures in boys with Duchenne muscular dystrophy","volume":"20","author":"Larson","year":"2000","journal-title":"J Pediatr Orthop"},{"key":"10.1016\/j.nmd.2020.03.009_bib0026","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/S1474-4422(18)30025-5","article-title":"DMD care considerations working group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.nmd.2020.03.009_bib0027","doi-asserted-by":"crossref","first-page":"S34","DOI":"10.1542\/peds.2018-0333E","article-title":"Bone health and osteoporosis management of the patient with Duchenne muscular dystrophy","volume":"142","author":"Ward","year":"2018","journal-title":"Pediatrics"},{"key":"10.1016\/j.nmd.2020.03.009_bib0028","doi-asserted-by":"crossref","first-page":"169","DOI":"10.3233\/JND-140031","article-title":"Reviewing large LAMA2 deletions and duplications in congenital muscular dystrophy patients","volume":"1","author":"Oliveira","year":"2014","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2020.03.009_bib0029","doi-asserted-by":"crossref","DOI":"10.1155\/2015\/960404","article-title":"Copy number variations in a population-based study of Charcot-Marie-tooth disease","volume":"2015","author":"Hoyer","year":"2015","journal-title":"Biomed Res Int"},{"key":"10.1016\/j.nmd.2020.03.009_bib0030","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1183\/20734735.012716","article-title":"Physiology of respiratory disturbances in muscular dystrophies","volume":"12","author":"Mauro","year":"2016","journal-title":"Breathe"},{"key":"10.1016\/j.nmd.2020.03.009_bib0031","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1369\/jhc.5A6889.2006","article-title":"Laminin-311 (laminin-6) fiber assembly by type I-like alveolar cells","volume":"54","author":"DeBiase","year":"2006","journal-title":"J Histochem Cytochem"},{"key":"10.1016\/j.nmd.2020.03.009_bib0032","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1165\/rcmb.2014-0057OC","article-title":"Lung-specific loss of a3 Laminin worsens bleomycin-induced pulmonary fibrosis","volume":"52","author":"Morales-Nebreda","year":"2015","journal-title":"Am J Respir Cell Mol Biol"},{"key":"10.1016\/j.nmd.2020.03.009_bib0033","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":"10.1016\/j.nmd.2020.03.009_bib0034","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1002\/ana.410420110","article-title":"Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities","volume":"42","author":"van der Knaap","year":"1997","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2020.03.009_bib0035","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/0387-7604(96)00028-9","article-title":"Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families","volume":"18","author":"Pini","year":"1996","journal-title":". Brain Dev"},{"key":"10.1016\/j.nmd.2020.03.009_bib0036","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ejmg.2018.07.012","article-title":"Tubulin genes and malformations of cortical development","volume":"61","author":"Romaniello","year":"2018","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.nmd.2020.03.009_bib0037","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/2051-5960-2-69","article-title":"Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly","volume":"2","author":"Fallet-Bianco","year":"2014","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.nmd.2020.03.009_bib0038","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 LAMA2gene resulting in exon skipping","volume":"124","author":"Di Blasi","year":"2001","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2020.03.009_bib0039","doi-asserted-by":"crossref","first-page":"229","DOI":"10.3233\/JND-150093","article-title":"Laminin \u03b12 deficiency-related muscular dystrophy mimicking Emery-Dreifuss and collagen VI related diseases","volume":"2","author":"Nelson","year":"2015","journal-title":"J Neuromuscul Dis"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896620300869?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896620300869?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:09:01Z","timestamp":1760774941000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896620300869"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":39,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["S0960896620300869"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2020.03.009","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2020,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients\u2019 cohort from Qatar. A population specific founder variant","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2020.03.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}