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Fig. 1 MRI characteristics of individual 1
Brain MRI of individual 1 at 17 months (A–C) and 35 months of age (D–F).
(A) and (D) Sagittal T1-weighted images at the midline showing cerebellar hypoplasia (thin arrows).
(B, C, E, and F) Axial T2-weighted images at the level of the basal ganglia (B and E) and centrum semiovale (C and F) showing progressive diffuse demyelination (dotted arrow).
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