{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T10:16:25Z","timestamp":1788430585169,"version":"build-2803163510"},"reference-count":69,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,5,7]],"date-time":"2021-05-07T00:00:00Z","timestamp":1620345600000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Duchenne muscular dystrophy (DMD) is an X\u2010linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in the dystrophin gene, resulting in the absence or sparse quantities of dystrophin protein. A precise and timely molecular detection of <jats:italic>DMD<\/jats:italic> mutations encourages interventions such as carrier genetic counselling and in undertaking therapeutic measures for the DMD patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this study, we developed a 2.1\u00a0Mb custom <jats:italic>DMD<\/jats:italic> gene panel that spans the entire <jats:italic>DMD<\/jats:italic> gene, including the exons and introns. The panel also includes the probes against 80 additional genes known to be mutated in other muscular dystrophies. This custom <jats:italic>DMD<\/jats:italic> gene panel was used to identify single nucleotide variants (SNVs) and large deletions with precise breakpoints in 77 samples that included 24 DMD patients and their matrilineage across four generations. We used this panel to evaluate the inheritance pattern of <jats:italic>DMD<\/jats:italic> mutations in maternal subjects representing 24 DMD patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Here we report our observations on the inheritance pattern of <jats:italic>DMD<\/jats:italic> gene mutations in matrilineage samples across four generations. Additionally, our data suggest that the <jats:italic>DMD<\/jats:italic> gene panel designed by us can be routinely used as a single genetic test to identify all <jats:italic>DMD<\/jats:italic> gene variants in DMD patients and the carrier mothers.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1633","type":"journal-article","created":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T22:30:21Z","timestamp":1620513021000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Matrilineal analysis of mutations in the <i>DMD<\/i> gene in a multigenerational South Indian cohort using <i>DMD<\/i> gene panel sequencing"],"prefix":"10.1002","volume":"9","author":[{"given":"Arun","family":"Shastry","sequence":"first","affiliation":[{"name":"Dystrophy Annihilation Research Trust (DART) Bangalore 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