Article Figures & Data
Figures
- Figure 1
- Genetic analysis results for the patient and her family. A) The pedigree of the patient’s family with compound heterozygous MYORG mutations. B &D) Normal control sequences. C) The c.687G>T variant. E) The c.348_349insCTGGCCTTCCGC variant. Family members I:1 and II:1 were carriers of c.687G>T, and family members I:2 and II:1 were carriers of c.348_349insCTGGCCTTCCGC.
- Figure 2
- Imaging findings from October 2018 and October 2019. Axial non-contrast CT (A & B) and MRI (C) scans of the brain taken in October 2018. Extensive symmetric calcifications can be observed in the bilateral basal ganglia, thalamus, dentate nuclei, and subcortical white matter. MRA (D) showed that there was no stenotic segment or occlusion in the intracranial arteries. DWI (E) of the brain taken in October 2019 showing hyperintense spots in the right internal capsule. DTI (F) showing the region of interest.
- Figure 3
- The timeline table of the case in this study.
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