Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome
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DOI: 10.1002/jimd.12022
Abstract: Mitochondrial aconitase is the second enzyme in the tricarboxylic acid (TCA) cycle catalyzing the interconversion of citrate into isocitrate and encoded by the nuclear gene ACO2. A homozygous pathogenic variant in the ACO2 gene was… read more here.
Keywords: radiological genetic; clinical radiological; aco2 gene; characteristics patients ... See more keywords