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CRAT missense variants cause abnormal carnitine acetyltransferase function in an early‐onset case of Leigh syndrome

26 Aug 2019

Abstract excerpt

Leigh syndrome, or subacute necrotizing encephalomyelopathy, is one of the most severe pediatric disorders of the mitochondrial energy metabolism. By performing whole-exome sequencing in a girl affected by Leigh syndrome and her parents, we identified two heterozygous missense variants (p.Tyr110Cys and p.Val569Met) in the carnitine acetyltransferase (CRAT) gene, encoding an enzyme involved in the control of...

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PMID: 31448845
DOI: 10.1002/humu.23901

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