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Biopsied muscle studies demonstrated deficient cytochrome c oxidase activities consistent with a mitochondrial disease. Whole exome sequencing (WES), however, revealed a homozygous <jats:italic>2p21<\/jats:italic> deletion involving two contiquous genes, <jats:italic>SLC3A1 (deletion of exons 2\u201010)<\/jats:italic> and <jats:italic>PREPL (deletion of exons 2\u201014)<\/jats:italic>. The molecular findings were consistent with the hypotonia\u2013cystinuria <jats:italic>2p21<\/jats:italic> deletion syndrome, presenting similarly in infancy with mitochondrial dysfunction but diverging later in childhood and displaying intrafamilial phenotypic variability.<\/jats:p>","DOI":"10.1002\/acn3.51464","type":"journal-article","created":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T17:27:32Z","timestamp":1633714052000},"page":"2199-2204","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Hypotonia\u2013cystinuria <i>2p21<\/i> deletion syndrome: Intrafamilial variability of clinical expression"],"prefix":"10.1002","volume":"8","author":[{"given":"Atif","family":"Towheed","sequence":"first","affiliation":[{"name":"Touro College of Osteopathic Medicine Middletown NY 10940"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian 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