{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T16:05:07Z","timestamp":1779984307318,"version":"3.53.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,28]]},"DOI":"10.7759\/cureus.109817","type":"journal-article","created":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T15:31:13Z","timestamp":1779982273000},"source":"Crossref","is-referenced-by-count":0,"title":["A Diagnostic Conundrum: Atypical McArdle Disease Mimic With Heterozygous PYGM Mutation and Cytochrome C Oxidase (COX)-Negative Fibers"],"prefix":"10.7759","author":[{"given":"Lisle W","family":"Blackbourn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran K","family":"Chandrasekar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Navya","family":"Peddireddy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory M","family":"Blume","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.3209","article-title":"Severe axial myopathy in McArdle disease","volume":"71","author":"Witting N","year":"2014","unstructured":"Witting N, Duno M, Piraud M, Vissing J. Severe axial myopathy in McArdle disease. JAMA Neurol. 2014, 71:88-90. 10.1001\/jamaneurol.2013.3209","journal-title":"JAMA Neurol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20235919","article-title":"McArdle disease: new insights into its underlying molecular mechanisms","volume":"20","author":"Llavero F","year":"2019","unstructured":"Llavero F, Arrazola Sastre A, Luque Montoro M, G\u00e1lvez P, Lacerda HM, Parada LA, Zugaza JL. McArdle disease: new insights into its underlying molecular mechanisms. Int J Mol Sci. 2019, 20:5919. 10.3390\/ijms20235919","journal-title":"Int J Mol Sci"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.219","article-title":"Taking advantage of an old concept, \"illegitimate transcription\", for a proposed novel method of genetic diagnosis of McArdle disease","volume":"18","author":"Garcia-Consuegra I","year":"2016","unstructured":"Garcia-Consuegra I, Bl\u00e1zquez A, Rubio JC, et al.. Taking advantage of an old concept, \"illegitimate transcription\", for a proposed novel method of genetic diagnosis of McArdle disease. Genet Med. 2016, 18:1128-35. 10.1038\/gim.2015.219","journal-title":"Genet Med"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27523","article-title":"High prevalence of paraspinal muscle involvement in adults with McArdle disease","volume":"65","author":"\u00c1lvarez-Velasco R","year":"2022","unstructured":"\u00c1lvarez-Velasco R, Nu\u00f1ez-Peralta CA, Alonso-P\u00e9rez J, et al.. High prevalence of paraspinal muscle involvement in adults with McArdle disease. Muscle Nerve. 2022, 65:568-73. 10.1002\/mus.27523","journal-title":"Muscle Nerve"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0203-2","article-title":"Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins","volume":"41","author":"N\u00fa\u00f1ez-Manch\u00f3n J","year":"2018","unstructured":"N\u00fa\u00f1ez-Manch\u00f3n J, Ballester-Lopez A, Koehorst E, et al.. Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins. J Inherit Metab Dis. 2018, 41:1027-35. 10.1007\/s10545-018-0203-2","journal-title":"J Inherit Metab Dis"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-010-0096-4","article-title":"A diagnostic algorithm for metabolic myopathies","volume":"10","author":"Berardo A","year":"2010","unstructured":"Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep. 2010, 10:118-26. 10.1007\/s11910-010-0096-4","journal-title":"Curr Neurol Neurosci Rep"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmet.2022.101648","article-title":"Low aerobic capacity in McArdle disease: a role for mitochondrial network impairment?","volume":"66","author":"Villarreal-Salazar M","year":"2022","unstructured":"Villarreal-Salazar M, Santalla A, Real-Mart\u00ednez A, et al.. Low aerobic capacity in McArdle disease: a role for mitochondrial network impairment?. Mol Metab. 2022, 66:101648. 10.1016\/j.molmet.2022.101648","journal-title":"Mol Metab"},{"key":"ref8","article-title":"McArdle disease: molecular genetic update","volume":"26","author":"Andreu AL","year":"2007","unstructured":"Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C. McArdle disease: molecular genetic update. Acta Myol. 2007, 26:53-7.","journal-title":"Acta Myol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000230154.79933.d7","article-title":"Do carriers of PYGM mutations have symptoms of McArdle disease?","volume":"67","author":"Andersen ST","year":"2006","unstructured":"Andersen ST, Dun\u00f8 M, Schwartz M, Vissing J. Do carriers of PYGM mutations have symptoms of McArdle disease?. Neurology. 2006, 67:716-8. 10.1212\/01.wnl.0000230154.79933.d7","journal-title":"Neurology"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25771","article-title":"A new glycogen storage disease caused by a dominant PYGM mutation","volume":"88","author":"Echaniz-Laguna A","year":"2020","unstructured":"Echaniz-Laguna A, Lornage X, Lafor\u00eat P, et al.. A new glycogen storage disease caused by a dominant PYGM mutation. Ann Neurol. 2020, 88:274-82. 10.1002\/ana.25771","journal-title":"Ann Neurol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-024-04802-x","article-title":"Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report","volume":"18","author":"Stalter J","year":"2024","unstructured":"Stalter J, Gies U, Mathys C, Witt K. Unusual presentation of PYGM gene mutation as late-onset McArdle disease with camptocormia: a case report. J Med Case Rep. 2024, 18:465. 10.1186\/s13256-024-04802-x","journal-title":"J Med Case Rep"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2025.101197","article-title":"Camptocormia as a feature of Mc Ardle's disease: a case report","volume":"42","author":"Nicolas M","year":"2025","unstructured":"Nicolas M, Giret C, Pellieux S, et al.. Camptocormia as a feature of Mc Ardle's disease: a case report. Mol Genet Metab Rep. 2025, 42:101197. 10.1016\/j.ymgmr.2025.101197","journal-title":"Mol Genet Metab Rep"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.12890\/2025_005849","article-title":"When fatigue hides a metabolic myopathy: a case report of McArdle disease with molecular diagnosis","volume":"12","author":"Teixeira Lima B","year":"2025","unstructured":"Teixeira Lima B, Carvalho AS, Camarneiro AC, Baptista BA, Rocha Gomes R, Br\u00e1s MI, Magalh\u00e3es S. When fatigue hides a metabolic myopathy: a case report of McArdle disease with molecular diagnosis. Eur J Case Rep Intern Med. 2025, 12:005849. 10.12890\/2025_005849","journal-title":"Eur J Case Rep Intern Med"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.103340","article-title":"The impact of muscle fatigue on McArdle disease: a case report","volume":"18","author":"Valente L","year":"2026","unstructured":"Valente L, Santos G, Velho R, Santos JF, Duarte O, Correia L. The impact of muscle fatigue on McArdle disease: a case report. Cureus. 2026, 18:103340. 10.7759\/cureus.103340","journal-title":"Cureus"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.70000","article-title":"McArdle\u2019s disease: a differential diagnosis of metabolic myopathies","volume":"16","author":"Nascimento J","year":"2024","unstructured":"Nascimento J, Pinho R, Pimenta de Castro A, Bernardino Vieira N. McArdle\u2019s disease: a differential diagnosis of metabolic myopathies. Cureus. 2024, 16:70000. 10.7759\/cureus.70000","journal-title":"Cureus"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.revmed.2024.03.011","article-title":"McArdle's disease revealed by acute low back pain (Article in French)","volume":"45","author":"Langbour C","year":"2024","unstructured":"Langbour C, Nicolas S, Bigot A, et al.. McArdle's disease revealed by acute low back pain (Article in French). Rev Med Interne. 2024, 45:312-5. 10.1016\/j.revmed.2024.03.011","journal-title":"Rev Med Interne"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/492791-a-diagnostic-conundrum-atypical-mcardle-disease-mimic-with-heterozygous-pygm-mutation-and-cytochrome-c-oxidase-cox-negative-fibers","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T15:31:14Z","timestamp":1779982274000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/492791-a-diagnostic-conundrum-atypical-mcardle-disease-mimic-with-heterozygous-pygm-mutation-and-cytochrome-c-oxidase-cox-negative-fibers"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,28]]},"references-count":16,"URL":"https:\/\/doi.org\/10.7759\/cureus.109817","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,5,28]]}}}