{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T02:29:35Z","timestamp":1767925775252,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,11,9]],"date-time":"2018-11-09T00:00:00Z","timestamp":1541721600000},"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":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content>20\/<jats:styled-content style=\"fixed-case\">FAM<\/jats:styled-content>36A<\/jats:italic> encodes a mitochondrial complex <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> assembly factor important for <jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content>2 activation. Only one homozygous <jats:italic><jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content>20<\/jats:italic> missense mutation has been previously described in two separate consanguineous families. We report four subjects with features that include childhood hypotonia, areflexia, ataxia, dysarthria, dystonia, and sensory neuropathy. Exome sequencing in all four subjects identified the same novel <jats:italic><jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content>20<\/jats:italic> variants. One variant affected the splice donor site of intron\u2010one (c.41A&gt;G), while the other variant (c.157+3G&gt;C) affected the splice donor site of intron\u2010two. <jats:styled-content style=\"fixed-case\">cDNA<\/jats:styled-content> and protein analysis indicated that no full\u2010length <jats:styled-content style=\"fixed-case\">cDNA<\/jats:styled-content> or protein was generated. These subjects expand the phenotype associated with <jats:styled-content style=\"fixed-case\">COX<\/jats:styled-content>20 deficiency.<\/jats:p>","DOI":"10.1002\/acn3.661","type":"journal-article","created":{"date-parts":[[2018,11,10]],"date-time":"2018-11-10T05:56:08Z","timestamp":1541829368000},"page":"154-160","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Novel pathogenic <i><scp>COX<\/scp>20<\/i> variants causing dysarthria, ataxia, and sensory neuropathy"],"prefix":"10.1002","volume":"6","author":[{"given":"Maria G.","family":"Otero","sequence":"first","affiliation":[{"name":"Board of Governors Regenerative Medicine Institute Cedars\u2010Sinai Medical Center Los Angeles California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Tiongson","sequence":"additional","affiliation":[{"name":"Division of Neurology Children's Hospital of Los Angeles Los Angeles 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