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Pedigrees of families 1 and 2 are shown in ( A ) and ( B ), respectively. T1-weighted FLAIR mode sagittal slice images of brain MRI of patients 1 and 2–1 are shown in ( C ) and ( D ), respectively. Sequenograms of the identified mutations in patients 1 and 2–1 are shown in ( E ) and ( F ), respectively. FLAIR, fluid attenuated inversion recovery; MRI, magnetic resonance imaging.
