{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T07:32:55Z","timestamp":1790839975768,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,4,4]],"date-time":"2019-04-04T00:00:00Z","timestamp":1554336000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","award":["MC1\/1064\/1"],"award-info":[{"award-number":["MC1\/1064\/1"]}],"id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","award":["MC3\/1064\/3"],"award-info":[{"award-number":["MC3\/1064\/3"]}],"id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","award":["MC4\/1064\/4"],"award-info":[{"award-number":["MC4\/1064\/4"]}],"id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004460","name":"Rotary Foundation","doi-asserted-by":"publisher","award":["GG1862130"],"award-info":[{"award-number":["GG1862130"]}],"id":[{"id":"10.13039\/100004460","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":[[2019,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The correct phenotypic classification of patients with facioscapulohumeral muscular dystrophy (FSHD) is crucial for directing genetic diagnosis and for the definition of outcome measures in clinical trials.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Our objective was to ascertain the utility of the Comprehensive Clinical Evaluation Form (CCEF), the clinical classification proposed by the Italian Clinical Network for FSHD, in an independent FSHD patient population from the UK FSHD Patient Registry. We subdivided the patients into group 1, classic FSHD phenotype\/category A of CCEF, and group 2, facial sparing phenotypes\/category B1 of CCEF.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 642 patients with FSHD1, 68.1% reported facial and shoulder weakness, whereas 24.1% reported shoulder weakness without facial impairment. The phenotype in group 2 was milder, with a higher mean age at onset (<jats:italic>P<\/jats:italic> &lt; 0.0001) and less severe motor disability.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Patients with different FSHD phenotypes may have different disease courses. <jats:italic>Muscle Nerve<\/jats:italic> 59:711\u2013713, 2019<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.26474","type":"journal-article","created":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T08:32:46Z","timestamp":1553157166000},"page":"711-713","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy"],"prefix":"10.1002","volume":"59","author":[{"given":"Giulia","family":"Ricci","sequence":"first","affiliation":[{"name":"John Walton Muscular Dystrophy Research Centre Institute of Genetic Medicine, Newcastle University  Newcastle upon Tyne United Kingdom"},{"name":"Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy via Roma 67 56126"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Cammish","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy via Roma 67 56126"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Siciliano","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy via Roma 67 56126"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Tupler","sequence":"additional","affiliation":[{"name":"Department of Life Sciences University of Modena and Reggio Emilia  Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanns","family":"Lochmuller","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics and Muscle Disorders, Medical Center\u2013University of Freiburg Faculty of Medicine  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy via Roma 67 56126"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,4,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00201-2"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01158.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000797"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001783"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2015-001353"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt226"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2015-007798"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8123-2"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90094-9"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.10.1927"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-045031-5.00013-X"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13509"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-016-8132-1"}],"container-title":["Muscle &amp; 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