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Here we use a urine \u201cliquid biopsy,\u201d droplet digital PCR, and sequencing of PCR products to identify a novel cryptic splice site in <jats:italic>DMD<\/jats:italic> intron 67 that causes dystrophinopathy. Pseudoexon inclusion is 35% in urine cells, 34% in urine extracellular RNA (exRNA), and 54% in muscle biopsy tissue, but absent in serum exRNA. Our results suggest that cryptic splice site use varies depending on the RNA source, and that urine RNA has the potential to substitute for muscle biopsies to identify <jats:italic>DMD<\/jats:italic> pseudoexons.<\/jats:p>","DOI":"10.1002\/acn3.777","type":"journal-article","created":{"date-parts":[[2019,5,18]],"date-time":"2019-05-18T04:09:55Z","timestamp":1558152595000},"page":"1106-1112","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Urine mRNA to identify a novel pseudoexon causing dystrophinopathy"],"prefix":"10.1002","volume":"6","author":[{"given":"Layal","family":"Antoury","sequence":"first","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital Boston Massachusetts"},{"name":"Harvard Medical School Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ningyan","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Neurology 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