{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T05:18:38Z","timestamp":1761110318702,"version":"3.37.3"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,3,21]],"date-time":"2017-03-21T00:00:00Z","timestamp":1490054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>McArdle disease is a glycogen storage disease caused by mutations in the <jats:italic>PYGM<\/jats:italic> gene encoding myophosphorylase. It manifests classically with childhood\u2010onset exercise\u2010induced pain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report the characteristics of 2 unrelated patients with a new homozygous mutation of the <jats:italic>PYGM<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two patients, aged 76 and 79 years, presented with severe upper and lower limb atrophy and weakness. Additionally, 1 patient presented with bilateral ptosis, and the other with camptocormia. In both patients, symptoms had developed progressively in the 2 preceding years, and there was no history of exercise intolerance. Both patients demonstrated myogenic abnormalities on electromyography, multiple glycogen\u2010containing vacuoles and undetectable muscle myophosphorylase activity on muscle biopsy, and a novel homozygous frameshift p.Lys42Profs*48 <jats:italic>PYGM<\/jats:italic> mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This report expands the phenotype and genotype of McArdle disease and suggests that <jats:italic>PYGM<\/jats:italic> mutations should be looked for in patients with very late\u2010onset myopathy with no previous history of exercise intolerance. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>57<\/jats:bold>: 157\u2013160, 2018<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25588","type":"journal-article","created":{"date-parts":[[2017,1,25]],"date-time":"2017-01-25T03:33:58Z","timestamp":1485315238000},"page":"157-160","source":"Crossref","is-referenced-by-count":8,"title":["Novel variant in the <i>PYGM<\/i> gene causing late\u2010onset limb\u2010girdle myopathy, ptosis, and camptocormia"],"prefix":"10.1002","volume":"57","author":[{"given":"Chrystel","family":"Ch\u00e9raud","sequence":"first","affiliation":[{"name":"D\u00e9partement de Neurologie, H\u00f4pital de Hautepierre, H\u00f4pitaux Universitaires de Strasbourg 1 Avenue Moli\u00e8re, 67098 Strasbourg France"},{"name":"Centre de R\u00e9f\u00e9rence Neuromusculaire du Grand Est (CERNEST), H\u00f4pital de Hautepierre, H\u00f4pitaux Universitaires de Strasbourg Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[{"name":"Service des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e9atrice","family":"Lannes","sequence":"additional","affiliation":[{"name":"Service de Pathologie, H\u00f4pital de Hautepierre, H\u00f4pitaux Universitaires de Strasbourg Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andoni","family":"Echaniz\u2010Laguna","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurologie, H\u00f4pital de Hautepierre, H\u00f4pitaux Universitaires de Strasbourg 1 Avenue Moli\u00e8re, 67098 Strasbourg France"},{"name":"Centre de R\u00e9f\u00e9rence Neuromusculaire du Grand Est (CERNEST), H\u00f4pital de Hautepierre, H\u00f4pitaux Universitaires de Strasbourg Strasbourg France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22806"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301593"},{"key":"e_1_2_6_4_1","first-page":"13","article-title":"Myopathy due to a defect in muscle glycogen breakdown","volume":"10","author":"McArdle B","year":"1951","journal-title":"Clin Sci"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21351"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24716"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.3209"},{"key":"e_1_2_6_8_1","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_9_1","doi-asserted-by":"crossref","unstructured":"Exome Aggregation Consortium (ExAC). 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A fetal isoenzyme?","volume":"102","author":"DiMauro S","year":"1977","journal-title":"Trans Am Neurol Assoc"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24789"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/35001141"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10499"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.25588","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.25588","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.25588","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.25588","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T02:21:25Z","timestamp":1693966885000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.25588"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,21]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/mus.25588"],"URL":"https:\/\/doi.org\/10.1002\/mus.25588","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"type":"print","value":"0148-639X"},{"type":"electronic","value":"1097-4598"}],"subject":[],"published":{"date-parts":[[2017,3,21]]}}}