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Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family.

Neurology India - 1 Jan 2000

Yuan Jing, Zhanga Canling, Qiao Shan, Wang Aihua, Zhang Shanchao

Abstract excerpt

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disease characterized by iron accumulation in the brain due to PANK2 gene mutation. The typical "eye-of-the-tiger" sign is the characteristic manifestation of brain magnetic resonance imaging (MRI). We report a Chinese patient with atypical PKAN whose brain MRI scans displayed the typical "eye-of-the-tiger" sign in bilateral...

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PMID: 35532650
DOI: 10.4103/0028-3886.344682

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