PMC8281295_01
Neuroradiological features. Brain MRI showed bilateral, symmetric signal abnormalities in the basal ganglia, and brain stem (A-C: T2-weighted images).
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F1
Brain MRI showed bilateral and symmetrical signal abnormalities in the thalami and midbrain (Figure 1).
Sequencegrams. m.13513G>A was identified in the DNA of the patient (A). The mutation was not found in DNA samples derived from his mother (B).
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F2
DNA sequence analysis revealed that the patient had a G-to-A transition at mitochondrial DNA nt 13513 in blood specimens, resulting in an amino acid change of Asp to Asn in the mitochondrial ND5 gene by LR-PCR and next-generation sequencing (NGS, Figure 2).