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Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and merosin-deficient congenital muscular dystrophy type 1 (MDC1A) are frequent forms caused by\n                      <jats:italic>DMD<\/jats:italic>\n                      (NM_004006.3) and\n                      <jats:italic>LAMA2<\/jats:italic>\n                      (NM_000426.4) mutations, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>\n                      Our study used whole exome sequencing to explore the molecular genetics of muscular dystrophies in six unrelated Pakistani families. We found four novel variants in the\n                      <jats:italic>LAMA2<\/jats:italic>\n                      ; c.7470_7473del; p.(Lys2490AsnfsTer56) in family A, c.7807del; p.(Ala2603HisfsTer4) in family C, c.8651T\u2009&gt;\u2009C; p.(Met2884Thr) in family D and c.4127T\u2009&gt;\u2009A; p.(Leu1376Ter) in family E associated with MDC1A in these families. Furthermore, two already cited\n                      <jats:italic>DMD<\/jats:italic>\n                      variants were identified: c.10,801\u00a0C\u2009&gt;\u2009T; p.(Gln872Ter) in family B and hemizygous genomic deletion in\n                      <jats:italic>DMD<\/jats:italic>\n                      (NM_004006.3):g.32438241_32809611del (corresponding to deletion of exons 7\u201329; GRCh38), which was identified (in family F) associated with BMD and DMD, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We present the first report of MDC1A-associated phenotypes caused by the\n                      <jats:italic>LAMA2<\/jats:italic>\n                      gene in the Pakistani population, while\n                      <jats:italic>DMD<\/jats:italic>\n                      -related cases have already been documented in the literature and public databases. Clinical and molecular diagnosis of these six affected families will be valuable in therapeutic interventions and prenatal diagnosis of neuromuscular dystrophies in the familial and Pakistani populations. Our study emphasizes the effectiveness of next generation sequencing technology over traditional diagnostic methods such as muscle biopsies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s11033-026-11679-0","type":"journal-article","created":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T11:12:06Z","timestamp":1773918726000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies"],"prefix":"10.1007","volume":"53","author":[{"given":"Riaz","family":"Ahmad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Almas","family":"Hashmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asad","family":"Ullah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ubaid Ur","family":"Rehman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Naeem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,3,19]]},"reference":[{"issue":"1","key":"11679_CR1","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1016\/j.nmd.2022.12.002","volume":"33","author":"L Benarroch","year":"2023","unstructured":"Benarroch L, Bonne G, Rivier F, Hamroun D (2023) The 2023 version of the gene table of neuromuscular disorders (nuclear genome). 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