Phenotypes and Genotypes of Patients with Pantothenate Kinase-Associated Neurodegeneration in Asian and Caucasian Populations: 2 Cases and Literature Review
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 repor...
Main Authors: | Chih-Hong Lee, Chin-Song Lu, Wen-Li Chuang, Tu-Hsueh Yeh, Shih-Ming Jung, Chia-Ling Huang, Szu-Chia Lai |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2013-01-01
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Series: | The Scientific World Journal |
Online Access: | http://dx.doi.org/10.1155/2013/860539 |
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