TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.4, ss.652-656, 2020 (SCI-Expanded)
Background. The recently described FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 13 (MTDPS13) manifests with severe encephalopathy, early-onset lactic acidosis, hypotonia, developmental delay and feeding difficulty. Less than 100 cases with FBXL4-related MTDPSI3 and 47 pathogenic mutations in the FBXL4 gene have been identified thus far. Here, we describe a patient diagnosed with MTDPSI3 with two novel variants of the FBXL4 gene.