{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T06:36:40Z","timestamp":1789627000965,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,6]],"date-time":"2014-11-06T00:00:00Z","timestamp":1415232000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p>Frequencies of typical myohistological changes such as ragged red fibers (<jats:styled-content style=\"fixed-case\">RRF<\/jats:styled-content>) and cytochrome c oxidase (<jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content>)\u2010deficient fibers have been suggested to be dependent on underlying mitochondrial <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">mtDNA<\/jats:styled-content>) defect. However, there are no systematic studies comparing frequencies of myohistological changes and underlying genotypes. The histopathological changes were analysed in 29 patients with genetically confirmed mitochondrial myopathies. Genotypes included multiple <jats:styled-content style=\"fixed-case\">mtDNA<\/jats:styled-content> deletions due to <jats:italic><jats:styled-content style=\"fixed-case\">POLG1<\/jats:styled-content><\/jats:italic> mutations (<jats:italic>n<\/jats:italic>\u2009=\u200911), single <jats:styled-content style=\"fixed-case\">mtDNA<\/jats:styled-content> deletion (<jats:italic>n<\/jats:italic>\u2009=\u200910) and <jats:styled-content style=\"fixed-case\">mtDNA<\/jats:styled-content> point mutation m.3243<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>&gt;<jats:styled-content style=\"fixed-case\">G<\/jats:styled-content> (<jats:italic>n<\/jats:italic>\u2009=\u20098). Histochemical reactions, including <jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>omori\u2010trichome, <jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">SDH<\/jats:styled-content> (succinate dehydrogenase) and <jats:styled-content style=\"fixed-case\">SDH<\/jats:styled-content> as well as immunohistological reaction with <jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content>\u2010antibody against subunit <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">COI<\/jats:styled-content>) were carried out in muscle biopsy sections of all patients. The <jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content>\u2010deficient fibers were observed most frequently in all three patient groups. The frequencies of myopathological changes were not significantly different in the different genotypes in all three histochemical stains. However, there was a tendency to lower means and variations in patients with point mutation. Only <jats:styled-content style=\"fixed-case\">COI<\/jats:styled-content>\u2010negative fibers were histochemically negative for <jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content> activity in all patient groups. Frequency of <jats:styled-content style=\"fixed-case\">COI<\/jats:styled-content>\u2010negative fibers was significantly lower in patients with <jats:styled-content style=\"fixed-case\">mtDNA<\/jats:styled-content> point mutation than in patients with deletions. This suggests that impact of point mutation on protein synthesis is less than that of deletions.<\/jats:p>","DOI":"10.1111\/neup.12173","type":"journal-article","created":{"date-parts":[[2014,11,7]],"date-time":"2014-11-07T03:15:46Z","timestamp":1415330146000},"page":"130-136","source":"Crossref","is-referenced-by-count":11,"title":["Frequencies of myohistological mitochondrial changes in patients with mitochondrial <scp>DNA<\/scp> deletions and the common m.3243<scp>A<\/scp>&gt;<scp>G<\/scp> point mutation"],"prefix":"10.1111","volume":"35","author":[{"given":"Charlotte Maria","family":"Zierz","sequence":"first","affiliation":[{"name":"Department of Neurology Martin\u2010Luther\u2010University, Halle\u2010Wittenberg  Halle\/Saale Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pushpa Raj","family":"Joshi","sequence":"additional","affiliation":[{"name":"Department of Neurology Martin\u2010Luther\u2010University, Halle\u2010Wittenberg  Halle\/Saale Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Zierz","sequence":"additional","affiliation":[{"name":"Department of Neurology Martin\u2010Luther\u2010University, Halle\u2010Wittenberg  Halle\/Saale Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,6]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(95)00073-V"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(96)00002-8"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370107"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410340409"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl233"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.289.5480.782"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/90058"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(90)90014-E"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.3858\/emm.2010.42.6.046"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(93)90002-P"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20449"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI19435"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000117217"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(89)90088-9"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.11.1822"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(94)00080-S"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1995.tb07007.x"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880180712"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.05.009"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.3.545"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00007423"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00689593"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2004.07.036"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fneup.12173","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.12173","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T12:53:07Z","timestamp":1696510387000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/neup.12173"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,6]]},"references-count":23,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1111\/neup.12173"],"URL":"https:\/\/doi.org\/10.1111\/neup.12173","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"value":"0919-6544","type":"print"},{"value":"1440-1789","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,6]]}}}