{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T15:44:20Z","timestamp":1789055060500,"version":"build-2803163510"},"reference-count":50,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T00:00:00Z","timestamp":1725235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T00:00:00Z","timestamp":1725235200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100005693","name":"Parent Project Muscular Dystrophy","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005693","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007698","name":"University of Florida","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007698","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction\/Aims<\/jats:title>\n                    <jats:p>The dystrophinopathies primarily affect males; however, female carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study aimed to evaluate muscle involvement and symptoms in females with dystrophinopathy using quantitative magnetic resonance imaging (MRI), functional assessments, and patient\u2010reported outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Controls and females with dystrophinopathy with muscle symptoms of pain, weakness, fatigue, or excessive tightness were enrolled in this cross\u2010sectional study. Participants underwent lower extremity MRI to quantify muscle inflammation, replacement by fat, and disease asymmetry. Cardiac MRI, functional ability, muscle symptoms, and serum creatine kinase levels were also evaluated.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Six pediatric females with dystrophinopathy (mean age: 11.7\u2009years), 11 adult females with dystrophinopathy (mean age: 41.3\u2009years), and seven controls enrolled. The mean fat fraction was increased in females with dystrophinopathy compared to controls in the soleus (0.11 vs. 0.03,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u2009.0272) and vastus lateralis (0.16 vs. 0.03,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u2009.004). Magnetic resonance spectroscopy water T\n                      <jats:sub>2<\/jats:sub>\n                      , indicative of muscle inflammation, was elevated in the soleus and\/or vastus lateralis in 11 of 17 individuals. North Star Ambulatory Assessment score was lower in the dystrophinopathy group compared to controls (29 vs. 34 points,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u2009.0428). From cardiac MRI, left ventricle T\n                      <jats:sub>1<\/jats:sub>\n                      relaxation times were elevated in females with dystrophinopathy compared to controls (1311\u2009\u00b1\u200955 vs. 1263\u2009\u00b1\u200925\u2009ms,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u2009.05), but ejection fraction and circumferential strain did not differ.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Symptomatic females with dystrophinopathy quantitatively demonstrate muscle replacement by fat and inflammation, along with impairments in functional ability and cardiac function. Additional research is needed to evaluate how symptoms and muscle involvement change longitudinally.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mus.28235","type":"journal-article","created":{"date-parts":[[2024,9,2]],"date-time":"2024-09-02T05:54:55Z","timestamp":1725256495000},"page":"988-999","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Skeletal muscle symptoms and quantitative\n                    <scp>MRI<\/scp>\n                    in females with dystrophinopathy"],"prefix":"10.1002","volume":"70","author":[{"given":"Breana M.","family":"Jenkins","sequence":"first","affiliation":[{"name":"Department of Physical Therapy University of Florida  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lathan D.","family":"Dixon","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy University of Florida  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin J.","family":"Kokesh","sequence":"additional","affiliation":[{"name":"Division of Pulmonology, Department of Pediatrics at the time of the study University of Florida  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9884-2190","authenticated-orcid":false,"given":"Carla D.","family":"Zingariello","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics University of Florida  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krista","family":"Vandenborne","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy University of Florida  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenn A.","family":"Walter","sequence":"additional","affiliation":[{"name":"Department of Physiology and Aging University of Florida  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7715-0865","authenticated-orcid":false,"given":"Alison M.","family":"Barnard","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy University of Florida  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ijcard.2020.05.052","article-title":"Duchenne and Becker muscular dystrophy carriers: evidence of cardiomyopathy by exercise and cardiac MRI testing","volume":"316","author":"Mah ML","year":"2020","journal-title":"Int J Cardiol"},{"issue":"3","key":"e_1_2_11_3_1","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1017\/cjn.2016.448","article-title":"Phenotypic variability of dystrophinopathy symptomatic female 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