{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T07:15:53Z","timestamp":1761894953600,"version":"3.37.3"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2009,8,7]],"date-time":"2009-08-07T00:00:00Z","timestamp":1249603200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Fondo de Investigacion Sanitaria","award":["PI07\/1257","PI07\/90043"],"award-info":[{"award-number":["PI07\/1257","PI07\/90043"]}]},{"DOI":"10.13039\/501100010801","name":"Xunta de Galicia","doi-asserted-by":"crossref","award":["PGIDIT06PXIB905328PR"],"award-info":[{"award-number":["PGIDIT06PXIB905328PR"]}],"id":[{"id":"10.13039\/501100010801","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2009,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>McArdle disease is an autosomal recessive muscle glycogenosis. In the typical clinical presentation, only exercise\u2010related symptoms are noted. Nevertheless, permanent weakness may occur, usually late in life. In this study we report on the clinical and genetic features of fixed muscle weakness in McArdle disease. Among the 80 McArdle patients being followed at the Institute of Myology of the Salp\u00eatri\u00e8re Hospital, 9 patients have permanent weakness. The diagnosis of McArdle disease was confirmed by muscle biopsy and genetic investigations. Two patterns of muscle weakness and wasting were noted: (1) proximal and symmetric in 5patients; and (2) asymmetric, mimicking facioscapulohumeral dystrophy (FSHD) in 4 patients. Computerized tomography scan showed fatty infiltration in the shoulder and pelvic girdle muscles. There was no clear correlation between genotype and the severity of muscle weakness. Proximal muscle weakness appeared after the age of 40 years and affected 11% of subjects in our series of 80 McArdle patients. Among patients over 40 years of age, 37.5% had muscle weakness. Muscle Nerve, 2009<\/jats:p>","DOI":"10.1002\/mus.21351","type":"journal-article","created":{"date-parts":[[2009,8,8]],"date-time":"2009-08-08T07:22:50Z","timestamp":1249716170000},"page":"350-357","source":"Crossref","is-referenced-by-count":51,"title":["Permanent muscle weakness in M<scp>C<\/scp>Ardle disease"],"prefix":"10.1002","volume":"40","author":[{"given":"Aleksandra A.","family":"Nadaj\u2010Pakleza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo M.","family":"Vincitorio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Eymard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Dion","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Teijeira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Vietez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Jeanpierre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Navarro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,8,7]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.12.014"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880040304"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410280410"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0730-725X(96)00236-6"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410050504"},{"key":"e_1_2_6_7_2","first-page":"1535","volume-title":"Myology","author":"DiMauro S","year":"2004"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196301172680306"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.55.5.407"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl071"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000249151.45200.71"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh384"},{"key":"e_1_2_6_13_2","first-page":"60","article-title":"McArdle disease\u2014what limit to the age of onset?","volume":"53","author":"Hewlett RH","year":"1978","journal-title":"S Afr Med J"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO;2-#"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-63-756-946"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1122"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.33.1.111"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1225"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00314633"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1983.04050060074014"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(200004)23:4<641::AID-MUS25>3.0.CO;2-M"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(01)01075-9"}],"container-title":["Muscle &amp; 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