{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T23:18:05Z","timestamp":1788909485203,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,6,17]],"date-time":"2019-06-17T00:00:00Z","timestamp":1560729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The objective of this study was to obtain a 6\u2010month natural history of motor function performance in individuals with <jats:italic>RYR1<\/jats:italic>\u2010 related myopathy (<jats:italic>RYR1\u2010<\/jats:italic>RM) by using the Motor Function Measure\u201032 (MFM\u201032) and graded functional tests (GFT) while facilitating preparation for interventional trials<jats:bold>.<\/jats:bold><\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In total, 34 participants completed the MFM\u201032 and GFTs at baseline and 6\u2010month visits.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Motor deficits according to MFM\u201032 were primarily observed in the standing and transfers domain (D1; mean 71%). Among the GFTs, participants required the most time to ascend\/descend stairs (&gt;7.5 s). Functional movement, determined by GFT grades, was strongly correlated with MFM\u201032 (D1; <jats:italic>r<\/jats:italic> \u2265 0.770, <jats:italic>P<\/jats:italic> &lt; 0.001). Motor Function Measure\u201032 and GFT scores did not reflect any change in performance between baseline and 6\u2010month visits.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The MFM\u201032 and GFTs detected motor impairment in <jats:italic>RYR1<\/jats:italic>\u2010RM, which remained stable over 6 months. Thus, these measures may be suitable for assessing change in motor function in response to therapeutic intervention. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>60<\/jats:bold>: 80\u201387, 2019<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26491","type":"journal-article","created":{"date-parts":[[2019,4,20]],"date-time":"2019-04-20T11:38:23Z","timestamp":1555760303000},"page":"80-87","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Motor function performance in individuals with <i>RYR1<\/i>\u2010related myopathies"],"prefix":"10.1002","volume":"60","author":[{"given":"Jessica W.","family":"Witherspoon","sequence":"first","affiliation":[{"name":"National Institute of Nursing Research, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Vuillerot","sequence":"additional","affiliation":[{"name":"L'Escale, Service de M\u00e9decine Physique et de R\u00e9adaptation P\u00e9diatrique H\u00f4pital Femme\u2010M\u00e8re\u2010Enfant, Hospices Civils de Lyon  F\u201069500, Bron, France. Universit\u00e9 de Lyon, F\u201069000, Lyon, France. Universit\u00e9 Lyon 1, F\u201069100, Villeurbanne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruhi P.","family":"Vasavada","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa R.","family":"Waite","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Shelton","sequence":"additional","affiliation":[{"name":"National Institute of Nursing Research, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene C.","family":"Chrismer","sequence":"additional","affiliation":[{"name":"National Institute of Nursing Research, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minal S.","family":"Jain","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine G.","family":"Meilleur","sequence":"additional","affiliation":[{"name":"National Institute of Nursing Research, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324929.33780.2f"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22056"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-117"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-31"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.88.12.1051"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21278"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnagi.2014.00339"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001110"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.03.004"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.apmr.2012.05.025"},{"key":"e_1_2_7_12_1","first-page":"1070","volume-title":"Rehabilitation of the child with a neuromuscular disorder","author":"Strauss N","year":"2015"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2016.11.017"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23905"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.apmr.2014.06.005"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2009.03316.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.4155\/cli.11.113"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1177\/1545968308324224"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812436605"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-013-0565-8"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/ptj\/68.2.185"},{"issue":"67","key":"e_1_2_7_22_1","first-page":"1","article-title":"The utility of the supine\u2010to\u2010stand test as a measure of functional motor competence in children aged 5\u20139 years","volume":"5","author":"Duncan M","year":"2017","journal-title":"Sports"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0966-6362(01)00162-X"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000249151.45200.71"},{"key":"e_1_2_7_25_1","volume-title":"Applications of EMG in clinical and sports medicine: Rijeka, Croatia: inTech","author":"Benedetti M","year":"2012"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.188"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1682\/JRRD.2013.06.0148"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880131309"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.18.2599"}],"container-title":["Muscle &amp; 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