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We report an additional subject possessing novel compound heterozygous <jats:italic>MRPS14<\/jats:italic> variants (p.Asp37Asn, p.Asn60Asp). The subject presented at 2\u2009years with motor and language delays associated with elevated serum lactate\/alanine levels. Brain MRI showed a constellation of signal abnormalities consistent with Leigh Syndrome, while MR spectroscopy had an increased lactate peak. Western blots of fibroblasts showed decreased MRPS14 and COX2 protein levels. These results support the pathogenicity of the MRPS14 variants identified here.<\/jats:p>","DOI":"10.1002\/acn3.70065","type":"journal-article","created":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T23:54:59Z","timestamp":1746230099000},"page":"1693-1697","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Compound Heterozygous <i>MRPS14<\/i> Variants Associated With Leigh Syndrome"],"prefix":"10.1002","volume":"12","author":[{"given":"Maria Gabriela","family":"Otero","sequence":"first","affiliation":[{"name":"Board of Governors Regenerative Medicine Institute Cedars\u2010Sinai Medical Center  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Freeman","sequence":"additional","affiliation":[{"name":"Board of Governors Regenerative Medicine Institute Cedars\u2010Sinai Medical Center  Los Angeles California 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