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In this report, we present 12 additional individuals with the same founder mutation who presented with variable manifestations ranging from asymptomatic lactic acidosis to a severe phenotype characterized by developmental regression and epilepsy. Our report confirms the link between <jats:italic>SLC25A42<\/jats:italic> and mitochondrial disease in humans, and suggests that pathogenic variants in <jats:italic>SLC25A42<\/jats:italic> should be interpreted with the understanding that the associated phenotype may be highly variable.<\/jats:p>","DOI":"10.1111\/cge.13210","type":"journal-article","created":{"date-parts":[[2018,1,12]],"date-time":"2018-01-12T07:12:35Z","timestamp":1515741155000},"page":"1097-1102","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Expanding the phenotype of <i>SLC25A42<\/i>\u2010associated mitochondrial encephalomyopathy"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7098-9879","authenticated-orcid":false,"given":"M.","family":"Almannai","sequence":"first","affiliation":[{"name":"Section of Medical Genetics Children's Hospital, King Fahad Medical City  Riyadh Saudi 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