{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:12:41Z","timestamp":1777857161701,"version":"3.51.4"},"reference-count":37,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T00:00:00Z","timestamp":1668124800000},"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":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2023,1,3]]},"abstract":"<jats:p>\n                    We report three siblings from a non-consanguineous family presenting with contractural limb-girdle phenotype with intrafamilial variability. Muscle MRI showed posterior thigh and quadriceps involvement with a sandwich-like sign. Whole-exome sequencing identified two compound heterozygous missense\n                    <jats:italic>TTN<\/jats:italic>\n                    variants and one heterozygous\n                    <jats:italic>LAMA2<\/jats:italic>\n                    variant. Brain MRI performed because of concentration difficulties in one of the siblings evidenced white-matter abnormalities, subsequently found in the others. The genetic analysis was re-oriented, revealing a novel pathogenic intronic\n                    <jats:italic>LAMA2<\/jats:italic>\n                    variant which confirmed the LAMA2-RD diagnosis. This work highlights the importance of a thorough clinical phenotyping and the importance of brain imaging, in order to orientate and interpret the genetic analysis.\n                  <\/jats:p>","DOI":"10.3233\/jnd-221555","type":"journal-article","created":{"date-parts":[[2022,11,11]],"date-time":"2022-11-11T11:31:04Z","timestamp":1668166264000},"page":"125-133","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>LAMA2<\/i>\n                    -Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD"],"prefix":"10.1177","volume":"10","author":[{"given":"Tanya","family":"Stojkovic","sequence":"first","affiliation":[{"name":"APHP, Reference Center for Neuromuscular Disorders, Institut de Myologie, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, France"},{"name":"INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Universit\u00e9, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Masingue","sequence":"additional","affiliation":[{"name":"APHP, Reference Center for Neuromuscular Disorders, Institut de Myologie, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"M\u00e9tay","sequence":"additional","affiliation":[{"name":"INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Universit\u00e9, Paris, France"},{"name":"AP-HP, Centre de G\u00e9n\u00e9tique Mol\u00e9culaire et Chromosomique, UF Cardiomyog\u00e9n\u00e9tique et Myog\u00e9n\u00e9tique Mol\u00e9culaire et Cellulaire, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norma B.","family":"Romero","sequence":"additional","affiliation":[{"name":"INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne 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