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A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism

BACKGROUND: Pantothenate-kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder that is characterized by progressive extrapyramidal signs, visual loss, and cognitive impairment. PKAN is caused by mutations in the pantothenate kinase gene (PANK2), which is loc...

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Bibliografski detalji
Glavni autori: Seo, Joo-Hyun, Song, Sook-Keun, Lee, Phil Hyu
Format: Artigo
Jezik:Inglês
Izdano: Korean Neurological Association 2009
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2806542/
https://ncbi.nlm.nih.gov/pubmed/20076801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2009.5.4.192
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