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Patients with intronic, splice site, or nonsense\n                      <jats:italic>DMD<\/jats:italic>\n                      mutations, with available muscle biopsy Western blot data, were included irrespective of whether they presented with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD). Patients were separated into 3 groups based on dystrophin protein levels. Clinical outcomes were ages at appearance of first symptoms; loss of ambulation; fall in vital capacity and left ventricular ejection fraction; interventions such as spinal fusion, tracheostomy, and noninvasive ventilation; and death.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of 3,880 patients with\n                      <jats:italic>DMD<\/jats:italic>\n                      mutations, 90 with mutations of interest were included. Forty\u2010two patients expressed no dystrophin (group A), and 31 of 42 (74%) developed DMD. Thirty\u2010four patients had dystrophin quantities &lt;\u20095% (group B), and 21 of 34 (61%) developed BMD. Fourteen patients had dystrophin quantities \u2265\u20095% (group C), and all but 4 who lost ambulation beyond 24\u2009years of age were ambulant. Dystrophin quantities of &lt;5%, as low as &lt;0.5%, were associated with milder phenotype for most of the evaluated clinical outcomes, including age at loss of ambulation (\n                      <jats:italic>p<\/jats:italic>\n                      &lt;\u20090.001).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>Very low residual dystrophin protein quantity can cause a shift in disease phenotype from DMD toward BMD. ANN NEUROL 2021;89:280\u2013292<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.25951","type":"journal-article","created":{"date-parts":[[2020,11,7]],"date-time":"2020-11-07T07:32:14Z","timestamp":1604734334000},"page":"280-292","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy"],"prefix":"10.1002","volume":"89","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0126-8768","authenticated-orcid":false,"given":"Yvan","family":"de Feraudy","sequence":"first","affiliation":[{"name":"Paris\u2010Saclay University, UVSQ, Inserm, END\u2010ICAP  Versailles France"},{"name":"Neuromuscular Reference Center, Pediatric Department Raymond Poincar\u00e9 Hospital  Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabah","family":"Ben Yaou","sequence":"additional","affiliation":[{"name":"Neuromuscular 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