{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T05:52:57Z","timestamp":1775886777633,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"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":["Annals of Neurology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Pathogenic\n                    <jats:italic>DMD<\/jats:italic>\n                    variants usually follow the reading\u2010frame rule: out\u2010of\u2010frame changes cause Duchenne muscular dystrophy, whereas in\u2010frame ones produce Becker muscular dystrophy (BMD). We report a 23\u2010year\u2010old man with BMD\u2010like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy. A novel hemizygous c.2281delG variant converted an A\u2084GA\u2085 motif to A\u2089, predicting a frameshift; however, Western blot showed ~15% full\u2010length dystrophin. cDNA and polymerse chain reaction (PCR)\u2010free direct RNA sequencing demonstrated transcriptional slippage, adding 1 adenine (A\u2081\u2080) that restores the reading frame and dystrophin. This RNA\u2010level rescue of an out\u2010of\u2010frame\n                    <jats:italic>DMD<\/jats:italic>\n                    variant explains the mild phenotype and highlights the importance of transcript\u2010level analysis in dystrophinopathies. ANN NEUROL 2026;99:223\u2013230\n                  <\/jats:p>","DOI":"10.1002\/ana.78096","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T05:50:44Z","timestamp":1763617844000},"page":"223-230","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a\n                    <scp>\n                      <i>DMD<\/i>\n                    <\/scp>\n                    Frameshift Variant"],"prefix":"10.1002","volume":"99","author":[{"given":"Hiroya","family":"Naruse","sequence":"first","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Mitsui","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine The University of Tokyo  Tokyo 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