{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T00:49:09Z","timestamp":1753922949712},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T00:00:00Z","timestamp":1711065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","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":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Carriers of <jats:italic>DMD<\/jats:italic> pathogenic variants may become symptomatic and develop muscle\u2010related manifestations. Despite that, few studies have attempted to characterize changes in the muscles of these carriers using imaging tools, particularly muscle ultrasound (MUS). The aim of this study was to compare lower limb MUS findings in carriers of <jats:italic>DMD<\/jats:italic> pathogenic variants (cDMD) vs healthy controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010eight women (15 cDMD and 13 controls) underwent clinical evaluation and MUS. We collected information about muscle\u2010related symptoms and assessed muscle strength. MUS was performed by a single physician (blind to the genetic status of subjects). The following muscles were assessed: rectus femoris, sartorius, tibialis anterior, and medial gastrocnemius. For each site, we computed data on muscle thickness, cross\u2010sectional area, sound attenuation index, and elastography. Between\u2010group comparisons were assessed using nonparametric tests and <jats:italic>p<\/jats:italic>\u2010values &lt;.05 were deemed significant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>None of the subjects had objective muscle weakness, but exercise intolerance\/fatigue was reported by four cDMDs and only one control. Regarding MUS, sound attenuation indices were significantly higher among carriers for all muscles tested. Longitudinal and axial deep echo intensities for the rectus femoris and tibialis anterior were also higher in the cDMD group compared with controls. No significant between\u2010group differences were noted for elastography values, muscle area, or mean echo intensities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>cDMD have skeletal muscle abnormalities that can be detected using quantitative MUS. Further studies are needed to determine whether such abnormalities are related to muscle symptoms in these patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.28086","type":"journal-article","created":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T12:30:29Z","timestamp":1711110629000},"page":"682-690","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Quantitative ultrasonography reveals skeletal muscle abnormalities in carriers of <scp><i>DMD<\/i><\/scp> pathogenic variants"],"prefix":"10.1002","volume":"69","author":[{"given":"Bruna Melo Coelho","family":"Loureiro","sequence":"first","affiliation":[{"name":"Department of Neurology, School of Medical Sciences University of Campinas (UNICAMP)  S\u00e3o Paulo Brazil"},{"name":"Department of Radiology, School of Medical Sciences University of Campinas (UNICAMP)  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana Rabelo","family":"de Brito","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medical Sciences University of Campinas (UNICAMP)  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Iwabe","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medical Sciences University of Campinas (UNICAMP)  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio San Juan","family":"Dertkigil","sequence":"additional","affiliation":[{"name":"Department of Radiology, School of Medical Sciences University of Campinas (UNICAMP)  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"Marcondes C.","family":"Fran\u00e7a","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medical Sciences University of Campinas (UNICAMP)  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,22]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90579-4"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.119"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.12868"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.49"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcmg.2012.09.017"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27057"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.04.005"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.707837"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-015-1192-7"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2017.12.024"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2020.06.001"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.23411"},{"issue":"1","key":"e_1_2_11_14_1","first-page":"1","article-title":"Ambulatory Duchenne muscular dystrophy children: cross\u2010sectional correlation between function, quantitative muscle ultrasound and MRI","volume":"41","author":"Abdulhady H","year":"2022","journal-title":"Acta Myol"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.02.007"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2020.05.052"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(80)92656-2"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2013.32.2.229"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.4324\/9780203771587"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1037\/a0024338"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26434"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cnp.2019.04.006"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24609"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/RUQ.0000000000000605"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ultrasmedbio.2021.06.008"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.diii.2013.02.005"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.3390\/s21248490"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.28086","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,7]],"date-time":"2024-05-07T09:14:41Z","timestamp":1715073281000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.28086"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,22]]},"references-count":26,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1002\/mus.28086"],"URL":"https:\/\/doi.org\/10.1002\/mus.28086","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,22]]},"assertion":[{"value":"2023-05-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}