{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T09:14:09Z","timestamp":1773306849155,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,11,21]],"date-time":"2021-11-21T00:00:00Z","timestamp":1637452800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2018\u201002821"],"award-info":[{"award-number":["2018\u201002821"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain Pathology"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two homoplasmic variants in tRNA<jats:sup>Glu<\/jats:sup> (m.14674T&gt;C\/G) are associated with reversible infantile respiratory chain deficiency. This study sought to further characterize the expression of the individual mitochondrial respiratory chain complexes and to describe the natural history of the disease. Seven patients from four families with mitochondrial myopathy associated with the homoplasmic m.14674T&gt;C variant were investigated. All patients underwent skeletal muscle biopsy and mtDNA sequencing. Whole\u2010genome sequencing was performed in one family. Western blot and immunohistochemical analyses were used to characterize the expression of the individual respiratory chain complexes. Patients presented with hypotonia and feeding difficulties within the first weeks or months of life, except for one patient who first showed symptoms at 4\u00a0years of age. Histopathological findings in muscle included lipid accumulation, numerous COX\u2010deficient fibers, and mitochondrial proliferation. Ultrastructural abnormalities included enlarged mitochondria with concentric cristae and dense mitochondrial matrix. The m.14674T&gt;C variant in <jats:italic>MT<\/jats:italic>\u2010<jats:italic>TE<\/jats:italic> was identified in all patients. Immunohistochemistry and immunoblotting demonstrated pronounced deficiency of the complex I subunit NDUFB8. The expression of MTCO1, a complex IV subunit, was also decreased, but not to the same extent as NDUFB8. Longitudinal follow\u2010up data demonstrated that not all features of the disorder are entirely transient, that the disease may be progressive, and that signs and symptoms of myopathy may develop during childhood. This study sheds new light on the involvement of complex I in reversible infantile respiratory chain deficiency, it shows that the disorder may be progressive, and that myopathy can develop without an infantile episode.<\/jats:p>","DOI":"10.1111\/bpa.13038","type":"journal-article","created":{"date-parts":[[2021,11,22]],"date-time":"2021-11-22T04:06:03Z","timestamp":1637553963000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T&gt;C variant"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2165-2345","authenticated-orcid":false,"given":"Sara","family":"Roos","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Institute of Biomedicine University of Gothenburg  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carola","family":"Hedberg\u2010Oldfors","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Institute of Biomedicine University of Gothenburg  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4800-8533","authenticated-orcid":false,"given":"Kittichate","family":"Visuttijai","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Institute of Biomedicine University of Gothenburg  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"My","family":"Stein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Helsingborg Hospital  Helsingborg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gittan","family":"Kollberg","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Institute of Biomedicine University of Gothenburg  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d3l\u00f6f","family":"El\u00edasd\u00f3ttir","sequence":"additional","affiliation":[{"name":"Department of Neurology Neuromuscular Center Sahlgrenska University Hospital  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Lindberg","sequence":"additional","affiliation":[{"name":"Department of Neurology Neuromuscular Center Sahlgrenska University Hospital  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niklas","family":"Darin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Institute of Clinical Sciences University of Gothenburg  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anders","family":"Oldfors","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Institute of Biomedicine University of Gothenburg  Gothenburg Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,11,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp221"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22111"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.089995"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.2_Part_1.300"},{"key":"e_1_2_10_6_1","first-page":"205","article-title":"Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency","volume":"106","author":"DiMauro S","year":"1981","journal-title":"Trans Am Neurol Assoc"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(94)90058-2"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.15252\/embj.2020105364"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00687578"},{"key":"e_1_2_10_10_1","first-page":"1","volume-title":"Muscle biopsy: a practical approach","author":"Dubowitz V","year":"2013"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy172"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12149"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9784-6"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.18"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100577"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2017.07.004"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2009.12.002"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2015.09.048"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp499"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp290"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.144"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt618"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12374"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12931"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/ane.13339"}],"container-title":["Brain Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bpa.13038","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/bpa.13038","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bpa.13038","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,18]],"date-time":"2023-08-18T22:30:52Z","timestamp":1692397852000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bpa.13038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,21]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1111\/bpa.13038"],"URL":"https:\/\/doi.org\/10.1111\/bpa.13038","archive":["Portico"],"relation":{},"ISSN":["1015-6305","1750-3639"],"issn-type":[{"value":"1015-6305","type":"print"},{"value":"1750-3639","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,21]]},"assertion":[{"value":"2021-06-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e13038"}}