{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T23:55:46Z","timestamp":1773964546454,"version":"3.50.1"},"reference-count":22,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2019,5]]},"DOI":"10.1016\/j.nmd.2019.04.001","type":"journal-article","created":{"date-parts":[[2019,4,10]],"date-time":"2019-04-10T11:21:03Z","timestamp":1554895263000},"page":"376-380","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI"],"prefix":"10.1016","volume":"29","author":[{"given":"Simona","family":"Saredi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Gibertini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0807-2570","authenticated-orcid":false,"given":"Leslie","family":"Matalonga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Farina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Ardissone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Moroni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Mora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.nmd.2019.04.001_bib0001","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1002\/humu.23599","article-title":"LAMA2 gene mutation update: Towards a more comprehensive picture of the laminin-\u03b12 variome and its related phenotypes","volume":"39","author":"Oliveira","year":"2018","journal-title":"Hum Mutat"},{"issue":"2","key":"10.1016\/j.nmd.2019.04.001_bib0002","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"},{"issue":"4","key":"10.1016\/j.nmd.2019.04.001_bib0003","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"},{"issue":"4","key":"10.1016\/j.nmd.2019.04.001_bib0004","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.2019.04.001_bib0005","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1073\/pnas.85.5.1544","article-title":"a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development","volume":"85","author":"Leivo","year":"1988","journal-title":"Proc Natl Acad Sci USA"},{"issue":"9","key":"10.1016\/j.nmd.2019.04.001_bib0006","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"},{"issue":"5","key":"10.1016\/j.nmd.2019.04.001_bib0007","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"},{"issue":"6","key":"10.1016\/j.nmd.2019.04.001_bib0008","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"},{"issue":"2","key":"10.1016\/j.nmd.2019.04.001_bib0009","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"},{"issue":"4","key":"10.1016\/j.nmd.2019.04.001_bib0010","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1002\/mus.24588","article-title":"LAMA2-related myopathy: frequency among congenital and limb-girdle muscular dystrophies","volume":"52","author":"L\u00f8kken","year":"2015","journal-title":"Muscle Nerve"},{"issue":"3","key":"10.1016\/j.nmd.2019.04.001_bib0011","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"},{"issue":"1","key":"10.1016\/j.nmd.2019.04.001_bib0012","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"},{"issue":"5","key":"10.1016\/j.nmd.2019.04.001_bib0013","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.nmd.2014.01.004","article-title":"Atypical phenotype in two patients with LAMA2 mutations","volume":"24","author":"Marques","year":"2014","journal-title":"Neuromuscul Disord"},{"issue":"6","key":"10.1016\/j.nmd.2019.04.001_bib0014","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1002\/1531-8249(200006)47:6<811::AID-ANA16>3.0.CO;2-9","article-title":"Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis","volume":"47","author":"Di Blasi","year":"2000","journal-title":"Ann Neurol"},{"issue":"6","key":"10.1016\/j.nmd.2019.04.001_bib0015","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1177\/088307389501000610","article-title":"Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy","volume":"10","author":"Shorer","year":"1995","journal-title":"J Child Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2019.04.001_bib0016","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1002\/mus.10544","article-title":"EMG and nerve conduction studies in children with congenital muscular dystrophy","volume":"29","author":"Quijano-Roy","year":"2004","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1016\/j.nmd.2019.04.001_bib0017","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"},{"issue":"3","key":"10.1016\/j.nmd.2019.04.001_bib0018","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1148\/radiology.206.3.9494506","article-title":"Congenital muscular dystrophy: Use of brain MR imaging findings to predict merosin deficiency","volume":"206","author":"Lamer","year":"1998","journal-title":"Radiology"},{"issue":"2","key":"10.1016\/j.nmd.2019.04.001_bib0019","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0960-8966(98)00110-2","article-title":"Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging","volume":"9","author":"Philpot","year":"1999","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.1016\/j.nmd.2019.04.001_bib0020","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"},{"issue":"11","key":"10.1016\/j.nmd.2019.04.001_bib0021","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"},{"issue":"8","key":"10.1016\/j.nmd.2019.04.001_bib0022","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.nmd.2014.05.008","article-title":"Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy","volume":"24","author":"Chan","year":"2014","journal-title":"Neuromuscul Disord"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896618314093?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896618314093?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:08:05Z","timestamp":1760774885000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896618314093"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["S0960896618314093"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2019.04.001","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2019,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2019.04.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}