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Article

Phenotypes and genotypes of patients with pantothenate kinase-associated neurodegeneration in Asian and Caucasian populations: 2 cases and literature review.

TheScientificWorldJournal - 1 Jan 2013

Lee Chih-Hong, Lu Chin-Song, Chuang Wen-Li, Yeh Tu-Hsueh, Jung Shih-Ming, Huang Chia-Ling, Lai Szu-Chia

Abstract excerpt

OBJECTIVES: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with PKAN. METHODS: Two patients with PKAN were reported. We reviewed the literature to include additional 19 patients with PKAN in Eastern Asia. These patients were...

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Identifiers

PMID: 24348190
DOI: 10.1155/2013/860539
PMCID: PMC3854131

Genes

PANK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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