{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:41:35Z","timestamp":1777804895211,"version":"3.51.4"},"reference-count":9,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T00:00:00Z","timestamp":1745884800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>\n                    The congenital muscular dystrophies are a group of inherited disorders that present in infancy or early childhood with generalized weakness and hypotonia as well as a wide range of other clinical manifestations. Merosin-deficient congenital muscular dystrophy, also referred to as\n                    <jats:italic toggle=\"yes\">LAMA2<\/jats:italic>\n                    -related muscular dystrophy, is caused by biallelic pathogenic variants in the\n                    <jats:italic toggle=\"yes\">LAMA2<\/jats:italic>\n                    gene and can present with both an early-onset infantile and late-onset childhood form. Patients with the most severe phenotype typically present within the first few months of life with severe weakness and hypotonia and can develop contractures, scoliosis, dysphagia, as well as peripheral nerve and central nervous system abnormalities. We report a case of an infant that presented with focal weakness of his upper extremities that was initially thought to be due to cervical spinal abnormality or brachial plexus injury but was ultimately found to have Merosin-deficient congenital muscular dystrophy. This case highlights an atypical presentation of congenital muscular dystrophy and demonstrates the importance of having a low threshold for testing for congenital muscular dystrophies in infants with abnormalities in strength or tone.\n                  <\/jats:p>","DOI":"10.1177\/08830738251333467","type":"journal-article","created":{"date-parts":[[2025,4,29]],"date-time":"2025-04-29T03:50:02Z","timestamp":1745898602000},"page":"674-677","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Atypical Presentation of Congenital Muscular Dystrophy: A LAMA2 Related Muscular Dystrophy"],"prefix":"10.1177","volume":"40","author":[{"given":"Sarah","family":"Oswald","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA"},{"name":"McGaw Medical Center of Northwestern University, Chicago, IL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3801-1554","authenticated-orcid":false,"given":"Martha","family":"Finch","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA"},{"name":"McGaw Medical Center of Northwestern University, Chicago, IL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abigail","family":"Schwaede","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,4,29]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2014.05.008"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2020.00118"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2020.00123"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23599"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.12.011"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.02.001"},{"issue":"6","key":"e_1_3_2_8_2","first-page":"1238","article-title":"An international retrospective early natural history study of LAMA2-related dystrophies","volume":"11","author":"Hinkley L","year":"2024","unstructured":"Hinkley L, Orbach R, Park J, et al. An international retrospective early natural history study of LAMA2-related dystrophies. Journal of Neuromuscular Disorders. 2024;11(6):1238-1246. doi: https:\/\/doi.org\/10.3233\/JND-240048","journal-title":"Journal of Neuromuscular Disorders"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10544"},{"key":"e_1_3_2_10_2","article-title":"LAMA2 neuropathies: human findings and pathomechanisms from mouse models","author":"Carlo Previtali S","year":"2020","unstructured":"Carlo Previtali S, Andrea Zombon A. LAMA2 neuropathies: human findings and pathomechanisms from mouse models. Front Mol Neurosci. 2020;13:60. doi: https:\/\/doi.org\/10.3389\/fnmol.2020.00060","journal-title":"Front Mol Neurosci"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251333467","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251333467","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251333467","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:41:35Z","timestamp":1777495295000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251333467"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,29]]},"references-count":9,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1177\/08830738251333467"],"URL":"https:\/\/doi.org\/10.1177\/08830738251333467","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,29]]}}}