{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T11:55:09Z","timestamp":1774439709260,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Muscular dystrophies (MDs) are a heterogeneous group of inherited neuromuscular disorders. In Morocco, where consanguinity is common, recurrent variants have been reported; however, the overall molecular landscape remains underexplored.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We analyzed 716 patients referred over 32\u2009years for suspected limb\u2010girdle muscular dystrophy (LGMD) or dystrophinopathy using a stepwise approach. Multiplex PCR (MPCR) for\n                      <jats:italic>DMD<\/jats:italic>\n                      deletions and targeted Sanger sequencing of the\n                      <jats:italic>SGCG<\/jats:italic>\n                      :c.525delT variant were performed as first\u2010line tests. Unsolved patients underwent next\u2010generation sequencing (NGS), either via a customized gene panel or whole\u2010exome sequencing (WES).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Multiplex PCR for\n                      <jats:italic>DMD<\/jats:italic>\n                      deletions and targeted Sanger sequencing of the\n                      <jats:italic>SGCG<\/jats:italic>\n                      :c.525delT variant resolved nearly half of cases, demonstrating the efficiency of these cost\u2010effective first\u2010line tests. Unsolved patients underwent next\u2010generation sequencing (NGS), via a customized gene panel or whole\u2010exome sequencing (WES), though resource limitations prevented full coverage. Among tested cases,\n                      <jats:italic>SGCA<\/jats:italic>\n                      ,\n                      <jats:italic>CAPN3<\/jats:italic>\n                      , and\n                      <jats:italic>FKRP<\/jats:italic>\n                      were the most frequently mutated genes after\n                      <jats:italic>DMD<\/jats:italic>\n                      and\n                      <jats:italic>SGCG<\/jats:italic>\n                      , with several novel or recurrent variants suggesting population\u2010specific alleles.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These results highlight the genetic heterogeneity of MDs in Morocco and the value of combining targeted and broad genomic approaches, while underscoring the need to extend NGS to fully characterize unresolved patients.<\/jats:p>\n                  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