{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T02:35:21Z","timestamp":1774578921642,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,5,7]],"date-time":"2021-05-07T00:00:00Z","timestamp":1620345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["1 ZIA HG20040201"],"award-info":[{"award-number":["1 ZIA HG20040201"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Complex II is an essential component of the electron transport chain, linking it with the tricarboxylic acid cycle. Its four subunits are encoded in the nuclear genome, and deleterious variants in these genes, including <jats:italic>SDHA<\/jats:italic> (OMIM 600857), are associated with a wide range of symptoms including neurological disease, cardiomyopathy, and neoplasia (paraganglioma\u2010pheochromocytomas (PGL\/PCC), and gastrointestinal stromal tumors). Deleterious variants of <jats:italic>SDHA<\/jats:italic> are most frequently associated with Leigh and Leigh\u2010like syndromes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>Here, we describe a case of a 9\u2010year\u2010old boy with tremor, nystagmus, hypotonia, developmental delay, significant ataxia, and progressive cerebellar atrophy. He was found to have biallelic variants in <jats:italic>SDHA<\/jats:italic>, a known pathogenic variant (c.91C&gt;T (p.R31*)), and a variant of unknown significance (c.454G&gt;A (p.E152K)). Deficient activity of complexes II and III was detected in fibroblasts from the patient consistent with a diagnosis of a respiratory chain disorder.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We, therefore, consider whether c.454G&gt;A (p.E152K) is, indeed, a pathogenic variant, and what implications it has for family members who carry the same variant.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1692","type":"journal-article","created":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T16:36:07Z","timestamp":1620491767000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum"],"prefix":"10.1002","volume":"9","author":[{"given":"Beattie R. 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