{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T15:33:51Z","timestamp":1782920031721,"version":"3.54.5"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2009,11,25]],"date-time":"2009-11-25T00:00:00Z","timestamp":1259107200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"crossref"}]},{"name":"P.C. Petersen's Foundation"},{"name":"Copenhagen Muscle Research Center (supported by grants from the University of Copenhagen and the Copenhagen Hospital Corporation"},{"name":"Sara and Ludvig Elsass Foundation"},{"name":"Danish National Research Council","award":["22-03-0474)"],"award-info":[{"award-number":["22-03-0474)"]}]},{"name":"Fabrikant Vilhelm Pedersen og Hustrus Legat, on recommendation from the Novo Nordisk Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2010,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We evaluated the diagnostic value of respiratory chain (RC) enzyme analysis of muscle in adult patients with mitochondrial myopathy (MM). RC enzyme activity was measured in muscle biopsies from 39 patients who carry either the 3243A&gt;G mutation, other tRNA point mutations, or single, large\u2010scale deletions of mtDNA. Findings were compared with those obtained from asymptomatic relatives with the 3243A&gt;G mutation, myotonic dystrophy patients, and healthy subjects. Plasma lactate concentration, maximal oxygen uptake, and ragged\u2010red fibers\/cytochrome <jats:italic>c<\/jats:italic>\u2013negative fibers in muscle were also determined. Only 10% of patients with the 3243A&gt;G point mutation had decreased enzyme activity of one or more RC complexes, whereas this was the case for 83% of patients with other point mutations and 62% of patients with deletions. Abnormal muscle histochemistry was found in 65%, 100%, and 85% of patients, respectively, in these three groups. The results indicate that RC enzyme analysis in muscle is not a sensitive test for MM in adults. In these patients, abnormal muscle histochemistry appears to be a better predictor ofMM. Muscle Nerve, 2010<\/jats:p>","DOI":"10.1002\/mus.21541","type":"journal-article","created":{"date-parts":[[2009,11,25]],"date-time":"2009-11-25T22:21:15Z","timestamp":1259187675000},"page":"607-613","source":"Crossref","is-referenced-by-count":19,"title":["Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations"],"prefix":"10.1002","volume":"41","author":[{"given":"Flemming","family":"Wibrand","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina D.","family":"Jeppesen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja L.","family":"Frederiksen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B.","family":"Olsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Duno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,11,25]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1391"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra022567"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000033795.17156.00"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.12.004"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.10.1533"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2004.07.003"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(86)90110-3"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-003-0206-1"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(03)00168-0"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.6.1875"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.6.1255"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1006\/bmmb.1994.1004"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(94)90270-4"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(69)13005-0"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10594"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/61.10.885"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/59.5.353"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0005-2728(02)00305-5"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00878873"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150170094"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21328"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.4161\/rna.2.2.1610"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(02)00442-2"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.3109\/01658108909007466"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300116"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00214-0"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162206000284"},{"key":"e_1_2_6_29_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-200303030-00038"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(98)00008-2"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1159\/000117269"}],"container-title":["Muscle &amp; 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