{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T16:08:52Z","timestamp":1771603732135,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T00:00:00Z","timestamp":1694131200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Clinical and genetic heterogeneities make diagnosis of limb\u2010girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence\u2010based multi\u2010gene panel (\u201cThe Lantern Focused Neuromuscular Panel\u201d) to detect both sequence variants and copy number variants in one assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients with clinical diagnosis of LGMD or other overlapping muscular dystrophies in the United States were tested by PerkinElmer Genomics in 2018\u20132021 via \u201cThe Lantern Project,\u201d a sponsored diagnostic testing program. Sixty\u2010six genes related to LGMD subtypes\u2010 and other myopathies were investigated. Main outcomes were diagnostic yield, gene\u2010variant spectrum, and LGMD subtypes' prevalence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Molecular diagnosis was established in 19.6% (1266) of 6473 cases. Major genes contributing to <jats:italic>LGMD<\/jats:italic> were identified including <jats:italic>CAPN3<\/jats:italic> (5.4%, 68), <jats:italic>DYSF<\/jats:italic> (4.0%, 51), <jats:italic>GAA<\/jats:italic> (3.7%, 47), <jats:italic>ANO5<\/jats:italic> (3.6%, 45), and <jats:italic>FKRP<\/jats:italic> (2.7%, 34). Genes of other overlapping MD subtypes identified included <jats:italic>PABPN1<\/jats:italic> (10.5%, 133), <jats:italic>VCP<\/jats:italic> (2.2%, 28), <jats:italic>MYOT<\/jats:italic> (1.2% 15), <jats:italic>LDB3<\/jats:italic> (1.0%, 13), <jats:italic>COL6A1<\/jats:italic> (1.5%, 19), <jats:italic>FLNC<\/jats:italic> (1.1%, 14), and <jats:italic>DNAJB6<\/jats:italic> (0.8%, 10). Different sizes of copy number variants including single exon, multi\u2010exon, and whole genes were identified in 7.5% (95) cases in genes including <jats:italic>DMD<\/jats:italic>, <jats:italic>EMD<\/jats:italic>, <jats:italic>CAPN3<\/jats:italic>, <jats:italic>ANO5<\/jats:italic>, <jats:italic>SGCG<\/jats:italic>, <jats:italic>COL6A2, DOK7<\/jats:italic>, and <jats:italic>LAMA2<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p><jats:bold>\u201c<\/jats:bold>The Lantern Focused Neuromuscular Panel\u201d enables identification of LGMD subtypes and other myopathies with overlapping clinical features. Prevalence of some MD subtypes was higher than previously reported. Widespread deployment of this comprehensive NGS panel has the potential to ensure early, accurate diagnosis as well as re\u2010define MD epidemiology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51896","type":"journal-article","created":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T05:01:21Z","timestamp":1694235681000},"page":"2092-2104","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies"],"prefix":"10.1002","volume":"10","author":[{"given":"Babi R. 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