{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T11:09:19Z","timestamp":1788260959697,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,11,15]],"date-time":"2024-11-15T00:00:00Z","timestamp":1731628800000},"content-version":"vor","delay-in-days":14,"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;amp; Gen Med"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145\/961 (15%) had variants in genes associated with other muscular dystrophies (OMDs).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>NGS was carried out in DMD negative patients after deletion\/duplication analysis followed by WES for No variant cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The majority of patients with OMDs had autosomal recessive diseases that included Limb\u2010Girdle Muscular Dystrophies (LGMDs), Bethlem, Ullrich congenital Myopathies and Emery\u2010Driefuss muscular dystrophy. 3.5% of patients were identified with other disorders like Charcot\u2010Marie Tooth and Nemaline myopathy. A small percentage of patients, 0.6% remain undiagnosed. Of a total of 78 genetic variants identified, 44 were found to be novel. Interestingly, a third of patients with OMDs were found to have LGMD2E\/R4, a severe form of LGMD that afflicts young children with clinical symptoms similar to DMD. Almost one third of the unrelated LGMD2E\/R4 patients had the same point mutation (c.544A&gt;C) in the <jats:italic>SGCB<\/jats:italic> gene, suggestive of a founder effect, described here for the first time in India.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study underscores the need for a complete genetic work up to precisely diagnose patients and to initiate appropriate counseling programs, disease management and prevention strategies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2123","type":"journal-article","created":{"date-parts":[[2024,11,16]],"date-time":"2024-11-16T06:40:27Z","timestamp":1731739227000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (<scp>OMDs<\/scp>), with <scp>LGMD2E<\/scp> (variant <i>SGCB<\/i> c.<scp>544A<\/scp>&gt;C) being the most common"],"prefix":"10.1002","volume":"12","author":[{"given":"Priya","family":"Karthikeyan","sequence":"first","affiliation":[{"name":"Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC) Royal Care Super Speciality Hospital  Coimbatore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalini H.","family":"Kumar","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC) Royal Care Super Speciality Hospital  Coimbatore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arati","family":"Khanna\u2010Gupta","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC) Royal Care Super Speciality Hospital  Coimbatore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5447-9473","authenticated-orcid":false,"given":"Lakshmi","family":"Bremadesam Raman","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics, Counseling, Care and Research Centre (MDCRC) Royal Care Super Speciality Hospital  Coimbatore India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,11,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/01677063.2017.1346093"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes10110856"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(18)30025\u20105"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978\u20100\u2010444\u201059565\u20102.00007\u20101"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u201094\u20107\u20107893\u20101_12"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.70"},{"key":"e_1_2_9_8_1","first-page":"1160","article-title":"Consanguinity and congenital anomalies in South India: A pilot study","volume":"54","author":"Centerwall W. 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