{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:52:47Z","timestamp":1789645967887,"version":"4.0.0"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,6,30]],"date-time":"2015-06-30T00:00:00Z","timestamp":1435622400000},"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":[[2015,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> We report the clinical, biochemical, and molecular findings in a Cypriot family with minimally symptomatic McArdle disease. <jats:italic>Methods<\/jats:italic>: Myophosphorylase in muscle was assessed by histochemistry, quantitative spectrophotometry, and western blot analysis. Mutation identification was performed by PCR amplification of all <jats:italic>PYGM<\/jats:italic> exons, followed by bidirectional sequencing. Screening for the new mutation was performed by restriction enzyme analysis. <jats:italic>Results<\/jats:italic>: We found that a novel c.1151C&gt;T transition in exon 10 of the myophosphorylase gene (<jats:italic>PYGM<\/jats:italic>) is associated with minimally symptomatic McArdle disease. Homozygous carriers displayed an ischemic exercise response characterized by a blunted increase in post\u2010exercise blood lactate levels in conjunction with an exaggerated increase in ammonia. Myophosphorylase activity in muscle was 3.75% of normal, whereas the size and abundance of the enzyme were unaffected. <jats:italic>Conclusions<\/jats:italic>: These findings expand the genotype\u2013phenotype spectrum of McArdle disease and suggest that enzymatic activity as low as 4% may be sufficient to ameliorate the phenotype. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>52<\/jats:bold>: 891\u2013895, 2015<\/jats:p>","DOI":"10.1002\/mus.24716","type":"journal-article","created":{"date-parts":[[2015,5,29]],"date-time":"2015-05-29T23:08:19Z","timestamp":1432940899000},"page":"891-895","source":"Crossref","is-referenced-by-count":7,"title":["Minimally symptomatic mcardle disease, expanding the genotype\u2013phenotype spectrum"],"prefix":"10.1002","volume":"52","author":[{"given":"Petros","family":"Petrou","sequence":"first","affiliation":[{"name":"Department of Biochemical Genetics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Pantzaris","sequence":"additional","affiliation":[{"name":"Neurology Clinics A &amp; C The Cyprus Institute of Neurology and Genetics P.O. Box 23462 1683 Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Dionysiou","sequence":"additional","affiliation":[{"name":"Department of Biochemical Genetics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthi","family":"Drousiotou","sequence":"additional","affiliation":[{"name":"Department of Biochemical Genetics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodoros","family":"Kyriakides","sequence":"additional","affiliation":[{"name":"Neurology Clinics A &amp; C The Cyprus Institute of Neurology and Genetics P.O. Box 23462 1683 Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2003.tb00971.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0913"},{"key":"e_1_2_7_4_1","first-page":"53","article-title":"McArdle disease: molecular genetic update","volume":"26","author":"Andreu AL","year":"2007","journal-title":"Acta Myol"},{"key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1093\/clinchem\/46.8.1198","article-title":"Ischemic exercise testing in suspected McArdle disease","volume":"46","author":"Zaman Z","year":"2000","journal-title":"Clin Chem"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01711182"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6587566"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.12.014"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1225"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2011-301593"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9434"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880181407"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12017-013-8233-2"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1529-8817.2003.00067.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410090311"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(69)13005-0"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0091-679X(01)65006-4"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:1<27::AID-HUMU4>3.0.CO;2-#"},{"key":"e_1_2_7_19_1","unstructured":"V Dubowitz CA Sewry 2007 Saunders Elsevier"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.53.617.161"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01846039"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp065"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD007931.pub2"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24716","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.24716","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T07:14:28Z","timestamp":1696490068000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.24716"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,30]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1002\/mus.24716"],"URL":"https:\/\/doi.org\/10.1002\/mus.24716","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,30]]}}}