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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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מידע ביבליוגרפי
Main Authors: Seo, Joo-Hyun, Song, Sook-Keun, Lee, Phil Hyu
פורמט: Artigo
שפה:Inglês
יצא לאור: Korean Neurological Association 2009
נושאים:
גישה מקוונת: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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