{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:26:59Z","timestamp":1787837219733,"version":"build-2784847793"},"reference-count":12,"publisher":"BMJ","issue":"7","funder":[{"name":"National Human Genome Research Institute\/National Heart, Lung, and Blood Institute","award":["NHGRI\/NHLBI UM1 HG006542"],"award-info":[{"award-number":["NHGRI\/NHLBI UM1 HG006542"]}]},{"DOI":"10.13039\/100000890","name":"National Multiple Sclerosis Society","doi-asserted-by":"publisher","award":["RG-1606-08768 & RG-2001-36011"],"award-info":[{"award-number":["RG-1606-08768 & RG-2001-36011"]}],"id":[{"id":"10.13039\/100000890","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,7,14]]},"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:p>Laminin-alpha2-related muscular dystrophy (LAMA2-MD) is a genetic condition due to reduced LAMA2, a protein found throughout the nervous system. Late-onset LAMA2-MD may present with proximal muscle weakness, joint contractures, neuropathy, epilepsy and\/or cardiorespiratory issues, and is less common than the neonatal form. We describe a novel phenotype of LAMA2-MD with progressive myelopathy and spinal cord abnormalities.<\/jats:p>\n               <jats:p>A woman was referred for evaluation of multiple sclerosis (MS) with progressive gait difficulty and abnormal neuroimaging showing white matter abnormalities in the brain and spinal cord. Ancillary testing was not consistent with primary neuroinflammatory disorders, systemic autoimmunity or infection. Metabolic workup revealed low cyanocobalamin. Genetic testing identified two LAMA2-MD variants.<\/jats:p>\n               <jats:p>Genetic disorders can mimic treatable neurological conditions. Chronic progressive course, involvement of the peripheral and central nervous systems, and confluent white matter abnormalities should be investigated with molecular testing that includes LAMA2 sequencing to ensure proper diagnosis and management.<\/jats:p>","DOI":"10.1136\/bcr-2022-249061","type":"journal-article","created":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T11:25:53Z","timestamp":1658489153000},"page":"e249061","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["LAMA2-related muscular dystrophy mimicking multiple sclerosis"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1194-9604","authenticated-orcid":false,"given":"Jacqueline","family":"Koshorek","sequence":"first","affiliation":[{"name":"Neuroimmunology and Neurological Infections, Johns Hopkins University, Baltimore, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara","family":"de Macena Sobreira","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiv","family":"Saidha","sequence":"additional","affiliation":[{"name":"Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,7,22]]},"reference":[{"key":"2025082711522045000_15.7.e249061.1","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0b013e31823c0f5f"},{"key":"2025082711522045000_15.7.e249061.2","doi-asserted-by":"crossref","DOI":"10.3389\/fnmol.2020.00123","article-title":"Lama2-Related dystrophies: clinical phenotypes, disease biomarkers, and clinical trial readiness","volume":"13","author":"Sarkozy","year":"2020","journal-title":"Front Mol Neurosci"},{"key":"2025082711522045000_15.7.e249061.3","doi-asserted-by":"crossref","DOI":"10.3389\/fnmol.2020.00118","article-title":"Brain dysfunction in Lama2-related congenital muscular dystrophy: lessons from human case reports and mouse models","volume":"13","author":"Arreguin","year":"2020","journal-title":"Front Mol Neurosci"},{"key":"2025082711522045000_15.7.e249061.4","doi-asserted-by":"crossref","first-page":"113","DOI":"10.2147\/TACG.S187481","article-title":"Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-\u03b12 chain-deficient congenital muscular dystrophy]]&gt","volume":"12","author":"Nguyen","year":"2019","journal-title":"TACG"},{"key":"2025082711522045000_15.7.e249061.5","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":"2025082711522045000_15.7.e249061.6","unstructured":"Oliveira J , Freixo JP , Santos M , et al . Lama2 muscular dystrophy. muscular dystrophy;25."},{"key":"2025082711522045000_15.7.e249061.7","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1111\/epi.16493","article-title":"Epilepsy in Lama2-related muscular dystrophy: an electro-clinico-radiological characterization","volume":"61","author":"Natera-de Benito","year":"2020","journal-title":"Epilepsia"},{"key":"2025082711522045000_15.7.e249061.8","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.174.3.1740863"},{"key":"2025082711522045000_15.7.e249061.9","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050610"},{"key":"2025082711522045000_15.7.e249061.10","doi-asserted-by":"publisher","DOI":"10.3390\/nu5114521"},{"key":"2025082711522045000_15.7.e249061.11","first-page":"31","volume-title":"urrent Topics in Membranes [Internet","volume":"vol. 76","author":"Durbeej","year":"2015"},{"key":"2025082711522045000_15.7.e249061.12","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.biocel.2014.10.021","article-title":"Analysing regenerative potential in zebrafish models of congenital muscular dystrophy","volume":"56","author":"Wood","year":"2014","journal-title":"Int J Biochem Cell Biol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-249061","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:52:31Z","timestamp":1756320751000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-249061"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":12,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2022,7,22]]},"published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1136\/bcr-2022-249061"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-249061","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7]]}}}