{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T14:42:30Z","timestamp":1780411350841,"version":"3.54.1"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T00:00:00Z","timestamp":1728345600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T00:00:00Z","timestamp":1728345600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100019559","name":"Carl von Ossietzky Universit\u00e4t Oldenburg","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100019559","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>In this case report we present the diagnostic work-up of a physically active 78-year-old Caucasian patient suffering from a 2-year history of progressive camptocormia including clinical, radiologic, histological, and genetic tests. There was no history of neuro-muscular diseases in the family. Serum CK levels were moderately increased while other blood\/urine parameters were normal. Magnetic resonance imaging showed fatty remodeling of the muscles of the back. Histochemical examination of a muscle biopsy revealed the absence of myophosphorylase activity, while gene analysis identified a known early-onset McArdle mutation in the PYGM gene.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This case highlights that the clinical spectrum of PYGM gene mutation typically manifest during adolescence, but it is also a differential diagnosis in late onset muscle disorders and emphases the investigation of the role of ACE inhibitors in this disease.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-024-04802-x","type":"journal-article","created":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T00:01:31Z","timestamp":1728345691000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report"],"prefix":"10.1186","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6760-7152","authenticated-orcid":false,"given":"Johannes","family":"Stalter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula","family":"Gies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Mathys","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karsten","family":"Witt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,10,8]]},"reference":[{"issue":"10","key":"4802_CR1","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1038\/ncpneuro0913","volume":"4","author":"A Lucia","year":"2008","unstructured":"Lucia A, Nogales-Gadea G, P\u00e9rez M, Mart\u00edn MA, Andreu AL, Arenas J. McArdle disease: what do neurologists need to know? Nat Clin Pract Neurol. 2008;4(10):568\u201377. https:\/\/doi.org\/10.1038\/ncpneuro0913.","journal-title":"Nat Clin Pract Neurol"},{"issue":"1","key":"4802_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/0925-4439(95)00060-H","volume":"1272","author":"C Bartram","year":"1995","unstructured":"Bartram C, Edwards RH, Beynon RJ. McArdle\u2019s disease-muscle glycogen phosphorylase deficiency. Biochim Biophys Acta Mol Basis Dis. 1995;1272(1):1.","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"4802_CR3","volume-title":"McArdle disease","author":"ZE Khattak","year":"2020","unstructured":"Khattak ZE, Ashraf M. McArdle disease. Treasure Island: StatPearls Publishing; 2020."},{"issue":"7","key":"4802_CR4","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1002\/humu.22806","volume":"36","author":"G Nogales-Gadea","year":"2015","unstructured":"Nogales-Gadea G, et al. McArdle disease: update of reported mutations and polymorphisms in the PYGM gene. Hum Mutat. 2015;36(7):669\u201378. https:\/\/doi.org\/10.1002\/humu.22806.","journal-title":"Hum Mutat"},{"issue":"1","key":"4802_CR5","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/mus.25588","volume":"57","author":"C Ch\u00e9raud","year":"2018","unstructured":"Ch\u00e9raud C, Froissart R, Lannes B, Echaniz-Laguna A. Novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia. Muscle Nerve. 2018;57(1):157\u201360. https:\/\/doi.org\/10.1002\/mus.25588.","journal-title":"Muscle Nerve"},{"issue":"1","key":"4802_CR6","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1001\/jamaneurol.2013.3209","volume":"71","author":"N Witting","year":"2014","unstructured":"Witting N, Duno M, Piraud M, Vissing J. Severe axial myopathy in McArdle disease. JAMA Neurol. 2014;71(1):88. https:\/\/doi.org\/10.1001\/jamaneurol.2013.3209.","journal-title":"JAMA Neurol"},{"key":"4802_CR7","doi-asserted-by":"publisher","DOI":"10.2147\/imcrj.s28664","author":"A Leite","year":"2012","unstructured":"Leite A, Oliveira N, Rocha M. McArdle disease: a case report and review. Int Med Case Rep J. 2012. https:\/\/doi.org\/10.2147\/imcrj.s28664.","journal-title":"Int Med Case Rep J"},{"issue":"1","key":"4802_CR8","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1002\/mus.10261","volume":"27","author":"M Deschauer","year":"2003","unstructured":"Deschauer M, Hertel K, Zierz S. Two novel mutations in the myophosphorylase gene in a patient with McArdle disease. Muscle Nerve. 2003;27(1):105\u20137. https:\/\/doi.org\/10.1002\/mus.10261.","journal-title":"Muscle Nerve"},{"issue":"3","key":"4802_CR9","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1002\/mus.20937","volume":"37","author":"A Martinuzzi","year":"2008","unstructured":"Martinuzzi A, et al. Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle\u2019s disease. Muscle Nerve. 2008;37(3):350\u20137. https:\/\/doi.org\/10.1002\/mus.20937.","journal-title":"Muscle Nerve"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04802-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-024-04802-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04802-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T00:01:42Z","timestamp":1728345702000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-024-04802-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,8]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["4802"],"URL":"https:\/\/doi.org\/10.1186\/s13256-024-04802-x","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,8]]},"assertion":[{"value":"5 December 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 August 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 October 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"465"}}