{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T08:23:52Z","timestamp":1793435032766,"version":"4.5.0"},"reference-count":33,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br J Sports Med"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:sec><jats:title>Background:<\/jats:title><jats:p>McArdle disease is an uncommon metabolic disorder usually characterized by marked exercise intolerance although great individual variability exists in its phenotypic manifestation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective:<\/jats:title><jats:p>The purpose of this study was to determine the association between angiotensin-converting enzyme (<jats:italic>ACE<\/jats:italic>) genotypes and indices of exercise capacity (peak oxygen uptake (V<jats:sc>O<jats:sub>2<\/jats:sub>peak<\/jats:sc>), ventilatory threshold (VT) and gross mechanical efficiency (GE)) in patients with McArdle disease. Based on previous research, it was hypothesized that the<jats:italic>I<\/jats:italic>allele might favourably influence exercise capacity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>Forty-four Spanish patients (23 males, 21 females) and 44 age-matched and gender-matched controls (23 males, 21 females) performed a graded cycle-ergometer test until exhaustion (for V<jats:sc>O<jats:sub>2<\/jats:sub>peak<\/jats:sc>and VT determination) and a 12 min constant-load test at the power output eliciting the VT (for GE determination).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>No significant difference (p&gt;0.05) was found in indices of exercise capacity between<jats:italic>ID + II<\/jats:italic>genotypes and<jats:italic>DD<\/jats:italic>homozygotes in the group of male patients, male controls and female controls. However, in the group of female patients, the<jats:italic>ID<\/jats:italic>+<jats:italic>II<\/jats:italic>group (n\u200a=\u200a11) had a higher V<jats:sc>O<jats:sub>2<\/jats:sub>peak<\/jats:sc>than<jats:italic>DD<\/jats:italic>homozygotes (n\u200a=\u200a10) (15.8 (SEM 1.6) ml\/kg\/min versus 11.9 (SEM 0.9) ml\/kg\/min, respectively; p&lt;0.05).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>The<jats:italic>I<\/jats:italic>allele of the<jats:italic>ACE<\/jats:italic>gene is associated with a higher functional capacity in female patients, and might partly explain the individual variability in the phenotypic manifestation of McArdle disease.<\/jats:p><\/jats:sec>","DOI":"10.1136\/bjsm.2007.038992","type":"journal-article","created":{"date-parts":[[2007,7,7]],"date-time":"2007-07-07T00:24:36Z","timestamp":1183767876000},"page":"134-140","source":"Crossref","is-referenced-by-count":18,"title":["The<i>I<\/i>allele of the<i>ACE<\/i>gene is associated with improved exercise capacity in women with McArdle disease"],"prefix":"10.1136","volume":"42","author":[{"given":"F","family":"G\u00f3mez-Gallego","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Santiago","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Mor\u00e1n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J L","family":"Mat\u00e9-Mu\u00f1oz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Fern\u00e1ndez","family":"del Valle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J C","family":"Rubio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Garcia-Consuegra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Foster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I A L","family":"Andreu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M A","family":"Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Arenas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Lucia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2007,7,6]]},"reference":[{"key":"2024051313133382000_42.2.134.1","first-page":"13","article-title":"Myopathy due to a defect in muscle glycogen breakdown.","volume":"10","author":"McArdle","year":"1951","journal-title":"Clin Sci"},{"key":"2024051313133382000_42.2.134.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199307223290404"},{"key":"2024051313133382000_42.2.134.3","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1002\/humu.9434","article-title":"McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.","volume":"27","author":"Bruno","year":"2006","journal-title":"Hum Mutat"},{"key":"2024051313133382000_42.2.134.4","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1225"},{"key":"2024051313133382000_42.2.134.5","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1002\/humu.9474","article-title":"A proposed molecular diagnosis flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.","volume":"28","author":"Rubio","year":"2007","journal-title":"Hum Mutat"},{"key":"2024051313133382000_42.2.134.6","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10499"},{"key":"2024051313133382000_42.2.134.7","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050781"},{"issue":"(Suppl 1)","key":"2024051313133382000_42.2.134.8","doi-asserted-by":"crossref","first-page":"S34","DOI":"10.2337\/diab.45.1.S34","article-title":"Kininase II-type enzymes. 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