{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:23:50Z","timestamp":1745468630333,"version":"3.40.4"},"reference-count":19,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T00:00:00Z","timestamp":1717977600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T00:00:00Z","timestamp":1717977600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Background: Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disorder characterized by muscle weakness and atrophy associated with early tendon retractions and late cardiomyopathy. Among several genes, EMD and LMNA are the major ones (55%). Due to intra- and inter-familial heterogeneity, only NGS allows to confirm with certainty EDMD by identifying the mutation in the causal gene. Case Presentation: We report clinical and molecular data of two unrelated Moroccan patients with EDMD in whom we identified a deleterious hemizygous splicing variant NM_000117.3(EMD): c.399 + 1G&gt;T and a novel frameshift variant NM_170707.4(LMNA): c.1549_1550delCA, respectively. Carrier status of the EMD variant was investigated in several relatives at risk. Conclusion: We emphasize the importance of NGS as a powerful genetic tool in EDMD for accurate molecular diagnosis, effective clinical management of patients, and appropriate genetic counseling of families. <\/jats:p>","DOI":"10.1159\/000538917","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T21:00:41Z","timestamp":1718139641000},"page":"517-522","source":"Crossref","is-referenced-by-count":0,"title":["Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel LMNA Pathogenic Variant"],"prefix":"10.1159","volume":"15","author":[{"given":"Yasmina","family":"Rahmuni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Youssef","family":"El Kadiri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaber","family":"Lyahyai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nezha","family":"Birouk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mounir","family":"Nesnassi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelaziz","family":"Sefiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilham","family":"Ratbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2024,6,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2015.311"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.10.001"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.06.558"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2013.12.008"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.29.4.338"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/6799"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1086\/302869"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2011.65"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26782"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200008)48:2%3c170::aid-ana6%3e3.0.co;2-j"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.e132"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/s0960-8966(98)00121-7"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.5.855"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1463"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21443"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000261254.87181.80"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21361"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22324"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1080\/19491034.2018.1462635"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/6\/517\/4308339\/000538917.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/6\/517\/4308339\/000538917.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:17:05Z","timestamp":1745421425000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000538917"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,10]]},"references-count":19,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,12,3]]},"published-print":{"date-parts":[[2024,12,4]]}},"URL":"https:\/\/doi.org\/10.1159\/000538917","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2024,6,10]]}}}