{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:44:33Z","timestamp":1790858673593,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T00:00:00Z","timestamp":1675900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron\u2013sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it. We present here the seventeenth individual with\n                    <jats:italic>LYRM7<\/jats:italic>\n                    \u2010associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous\n                    <jats:italic>LYRM 7<\/jats:italic>\n                    variant, c.2T&gt;C, (p.Met1?). Like previously reported individuals, our 5\u2010year\u2010old male proband presented with recurrent metabolic and lactic acidosis, encephalopathy, and fatigue. Further, he has additional, previously unreported features, including an acute stroke like episode with bilateral central blindness and optic neuropathy, recurrent hyperglycemia and hypertension associated with metabolic crisis. However, he has no signs of psychomotor regression. He has been stable clinically with residual left\u2010sided reduced visual acuity and amblyopia, and no more metabolic crises for 2\u2010year\u2010period while on the mitochondrial cocktail. Although the reported brain MRI findings in other affected individuals are homogenous, it is slightly different in our index, revealing evidence of bilateral almost symmetric multifocal periventricular T2 hyperintensities with hyperintensities of the optic nerves, optic chiasm, and corona radiata but with no cavitation or cystic changes. This report describes new clinical and radiological findings of\n                    <jats:italic>LYRM7<\/jats:italic>\n                    \u2010associated disease. The report also summarizes the clinical and molecular data of previously reported individuals describing the full phenotypic spectrum.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63143","type":"journal-article","created":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T07:01:56Z","timestamp":1675926116000},"page":"1401-1411","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["<scp>\n                      <i>LYRM7<\/i>\n                      \u2010associated\n                    <\/scp>\n                    mitochondrial complex\n                    <scp>III<\/scp>\n                    deficiency with n\n                    <scp>on\u2010cavitating<\/scp>\n                    leukoencephalopathy and s\n                    <scp>troke\u2010like<\/scp>\n                    episodes"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8764-4930","authenticated-orcid":false,"given":"Rita","family":"Alfattal","sequence":"first","affiliation":[{"name":"Department of Pediatrics Al\u2010Amiri Hospital, Ministry of Health  Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Alfarhan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Health Sciences Centre, Faculty of Medicine, Kuwait University  Safat Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeeb M.","family":"Algaith","sequence":"additional","affiliation":[{"name":"University of Szeged Faculty of Medicine  Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Buthaina","family":"Albash","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Center Ministry of Health  Sulaibikhat Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reem M.","family":"Elshafie","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Center Ministry of Health  Sulaibikhat Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Alshammari","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Center Ministry of Health  Sulaibikhat Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad","family":"Alahmad","sequence":"additional","affiliation":[{"name":"Kuwait Medical Genetics Center Ministry of Health  Sulaibikhat Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima","family":"Dashti","sequence":"additional","affiliation":[{"name":"Department of Radiology Ibn Sina Hospital, Ministry of Health  Safat Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasha","family":"Alsafi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Adan Hospital, Ministry of Health  Hadiya Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hind","family":"Alsharhan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Health Sciences Centre, Faculty of Medicine, Kuwait University  Safat Kuwait"},{"name":"Kuwait Medical Genetics Center Ministry of Health  Sulaibikhat Kuwait"},{"name":"Department of Pediatrics Farwaniya Hospital, Ministry of Health  Sabah Al\u2010Nasser Kuwait"},{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,2,9]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.15.11.6196"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.MSARD.2020.102615"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/BRAIN\/AWV392"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/NG706"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/AJMG.A.20171"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/40663"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/S12033-008-9100-5"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1155\/2017\/7202589"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/HMG\/DDM072"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/FGENE.2015.00134"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/J.1432-1327.2001.02010.X"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/JHG.2017.22"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.AJHG.2013.06.015"},{"key":"e_1_2_9_15_1","unstructured":"Gene: LYRM7 (ENSG00000186687). 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