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...

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Detalles Bibliográficos
Autores principales: Lee, Chih-Hong, Lu, Chin-Song, Chuang, Wen-Li, Yeh, Tu-Hsueh, Jung, Shih-Ming, Huang, Chia-Ling, Lai, Szu-Chia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3854131/
https://www.ncbi.nlm.nih.gov/pubmed/24348190
http://dx.doi.org/10.1155/2013/860539

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3854131/
https://www.ncbi.nlm.nih.gov/pubmed/24348190
http://dx.doi.org/10.1155/2013/860539

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