{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T06:56:19Z","timestamp":1761807379314},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,12,20]],"date-time":"2007-12-20T00:00:00Z","timestamp":1198108800000},"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":[[2008,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>McArdle's disease causes limitation in exercise capacity as well as disability, the severity of which has been associated with the angiotensin\u2010converting enzyme (ACE) insertion (I)\/deletion (D) haplotype\u2014patients with the genotype associated with higher ACE activity show the most severe phenotype. Modulation of ACE activity through the use of inhibitors may thus positively affect disease expression. In a double\u2010blind, randomized, placebo\u2010controlled trial, we assessed the efficacy of an ACE inhibitor (2.5 mg ramipril) in 8 patients with McArdle's disease. End\u2010points were changes in parameters of exercise physiology (cycloergometer and muscle <jats:sup>31<\/jats:sup>P\u2010magnetic resonance spectroscopy), quality of life (QoL) according to the Short Form 36 (SF\u201036), and disability according to the World Health Organization\u2013Disability Assessment Scale II (WHO\u2010DAS II). Patients had lower QoL and higher disability than controls. Measures of exercise physiology were not changed by ramipril in the whole group, but treatment induced higher peak VO<jats:sub>2<\/jats:sub> (<jats:italic>P<\/jats:italic> = 0.017) in ACE D\/D patients, yet not in I\/D patients. Treatment significantly improved disability (<jats:italic>P<\/jats:italic> &lt; 0.05). McArdle's disease is a disabling condition affecting patients' QoL. Treatment with ramipril improves disability and modifies exercise physiology only in D\/D patients, raising the possibility of a differential haplotype\u2010linked sensitivity to the treatment. Muscle Nerve, 2008<\/jats:p>","DOI":"10.1002\/mus.20937","type":"journal-article","created":{"date-parts":[[2007,12,20]],"date-time":"2007-12-20T19:52:07Z","timestamp":1198180327000},"page":"350-357","source":"Crossref","is-referenced-by-count":34,"title":["Randomized, placebo\u2010controlled, double\u2010blind pilot trial of ramipril in McArdle's disease"],"prefix":"10.1002","volume":"37","author":[{"given":"Andrea","family":"Martinuzzi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Liava","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Trevisi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara","family":"Frare","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caterina","family":"Tonon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emil","family":"Malucelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Manners","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graham J.","family":"Kemp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Testa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Barbiroli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaele","family":"Lodi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,12,20]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-4356(98)00094-8"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1152\/japplphysiol.00589.2002"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-4356(03)00051-9"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00421-006-0309-3"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.2337\/diab.45.1.S110"},{"key":"e_1_2_7_7_2","first-page":"1554","volume-title":"Myology","author":"Di Mauro S","year":"1994"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.2337\/diab.45.1.S34"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0024-3205(99)00679-7"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjsm.2007.038992"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpendo.2001.280.1.E150"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20881"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-2725(02)00342-4"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20278"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20645"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1225"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10499"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1097\/JSM.0b013e3180f6168c"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)08024-8"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2005.08.026"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.1.35"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005344-199423001-00006"},{"key":"e_1_2_7_23_2","first-page":"CD003458","article-title":"Pharmacological and nutritional treatment for McArdle's disease (glycogen storage type V)","author":"Quinlivan R","year":"2006","journal-title":"Cochrane Systematic Rev"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2007.06.025"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa065061"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.98.17.1742"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa031836"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005650-199206000-00002"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.54.10.2961"},{"key":"e_1_2_7_30_2","first-page":"6","article-title":"WHO Mental Health Bulletin. 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