case_images: PMC9780693_01
case_images: Brain MRI showed atrophy of the cerebrum and cerebellum.
case_images: fnins-16-1064566-g0001.jpg
case_images: PMC9780693_01_fnins-16-1064566-g0001.jpg
case_images: F1
case_images: Brain MRI showed atrophy of the cerebrum and cerebellum (Figure 1).
case_images: Patient gene map: A heterozygous variation of c.991G > T (p.D331Y); a heterozygous variation of c.1427 + 1G>A.
case_images: fnins-16-1064566-g0002.jpg
case_images: PMC9780693_01_fnins-16-1064566-g0002.jpg
case_images: F2