{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T01:51:33Z","timestamp":1790905893220,"version":"4.1.0"},"reference-count":33,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,3,24]],"date-time":"2023-03-24T00:00:00Z","timestamp":1679616000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100010434","name":"\u201cLa Caixa\u201d Foundation","doi-asserted-by":"publisher","award":["LCF\/PR\/GN16\/50290001 LCF\/PR\/GN19\/50320002"],"award-info":[{"award-number":["LCF\/PR\/GN16\/50290001 LCF\/PR\/GN19\/50320002"]}],"id":[{"id":"10.13039\/100010434","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI21\/00094"],"award-info":[{"award-number":["PI21\/00094"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    Laminopathies are caused by rare alterations in\n                    <jats:italic>LMNA<\/jats:italic>\n                    , leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes by performing a targeted genetic analysis of patients diagnosed with\n                    <jats:italic>LMNA<\/jats:italic>\n                    -related muscular dystrophy to identify rare variants in alternative genes, thereby explaining phenotypic differences.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods:<\/jats:bold>\n                    We analyzed 105 genes associated with muscular diseases by targeted sequencing in 26 pediatric patients of different countries, diagnosed with any\n                    <jats:italic>LMNA<\/jats:italic>\n                    -related muscular dystrophy. Family members were also clinically assessed and genetically analyzed.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    All patients carried a pathogenic rare variant in\n                    <jats:italic>LMNA<\/jats:italic>\n                    . Clinical diagnoses included Emery-Dreifuss muscular dystrophy (EDMD, 13 patients),\n                    <jats:italic>LMNA<\/jats:italic>\n                    -related congenital muscular dystrophy (L-CMD, 11 patients), and limb-girdle muscular dystrophy 1B (LGMD1B, 2 patients). In 9 patients, 10 additional rare genetic variants were identified in 8 genes other than\n                    <jats:italic>LMNA<\/jats:italic>\n                    . Genotype-phenotype correlation showed additional deleterious rare variants in five of the nine patients (3 L-CMD and 2 EDMD) with severe phenotypes.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    Analysis f known genes related to muscular diseases in close correlation with personalized clinical assessments may help identify additional rare variants of\n                    <jats:italic>LMNA<\/jats:italic>\n                    potentially associated with early onset or most severe disease progression.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2023.1135438","type":"journal-article","created":{"date-parts":[[2023,3,24]],"date-time":"2023-03-24T01:13:40Z","timestamp":1679620420000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":13,"title":["LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical 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