Phenotypes and Genotypes of Patients with Pantothenate Kinase-Associated Neurodegeneration in Asian and Caucasian Populations: 2 Cases and Literature Review
(a) The iron stain of the brain of our patient one showed diffuse granules with iron deposits in the globus pallidus. (b) Sequence chromatographs of exon 3 of PANK2 gene showed a heterozygous T insertion (c.1408insT) leading to a stop codon and therefore a truncation of the protein at position 350 (I349X).
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