case_images: PMC2800009_01
case_images: (A) Pedigree of a Korean family with maternally inherited, pediatric-onset dystonia carrying the G14459A mutation. (B) Direct sequencing analyses of the mitochondrial DNA for the G14459A mutation. Circle, female; square, male; black symbol, affected; dot, asymptomatic carrier; diagonal line, deceased.
case_images: jkms-25-180-g001.jpg
case_images: PMC2800009_01_jkms-25-180-g001.jpg
case_images: F1
case_images: The proband (individual III-12), a younger sister (III-13), and a younger brother (III-14) were a 34-yr-old man, a 32-yr-old woman, and a 30-yr-old man, respectively, who had non-consanguineous parents (Fig. 1A). Six members (II-7, III-11, III-12, III-13, III14, and IV-3) of the family were investigated by molecular genetic tests (Fig. 1A).
case_images: Brain MRI of the proband (A, B) and his nephew (C, D). (A) The T2 weighted image of the proband show bilateral striatal hyperintensities with necrosis. (B) The T1 weighted image of the proband show bilateral hypointensities with necrosis. (C) The T2 weighted image of his nephew shows bilateral putaminal hyperintensities without necrosis. (D) The T1 weighted image of his nephew shows bilateral putaminal hypointensities without necrosis.
case_images: jkms-25-180-g002.jpg
case_images: PMC2800009_01_jkms-25-180-g002.jpg
case_images: F2
case_images: Brain MRI showed the presence of bilateral symmetric tissue losses in both the putamen and caudate nucleus (Fig. 2). T2-weighted images, without necrosis (Fig. 2). The maternal uncle (II-3) and maternal cousins (III-1 and III-2) suffered from progressive dystonia.