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A) Pedigree of the NCL family. Black symbols refer to affected individuals.. Half-black symbols into third and fourth generation individuals symbols (III:6, III:7, IV:3) represents the MFSD8 c.1219T>C and c.1361T>C mutations at heterozygous state. B) Brain magnetic resonance imaging (T2-FLAIR image, axial section) of patient (P3) showing mild cerebral atrophy.
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MRI brain showed diffuse cerebral and cerebellar atrophy with normal thalamus ( Figure 1B ).
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