PMC9780693_01
Brain MRI showed atrophy of the cerebrum and cerebellum.
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Brain MRI showed atrophy of the cerebrum and cerebellum (Figure 1).
Patient gene map: A heterozygous variation of c.991G > T (p.D331Y); a heterozygous variation of c.1427 + 1G>A.
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PMC9780693_01_fnins-16-1064566-g0002.jpg
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