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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Detalles Bibliográficos
Autores principales: Seo, Joo-Hyun, Song, Sook-Keun, Lee, Phil Hyu
Formato: Texto
Lenguaje:English
Publicado: Korean Neurological Association 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806542/
https://www.ncbi.nlm.nih.gov/pubmed/20076801
http://dx.doi.org/10.3988/jcn.2009.5.4.192

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806542/
https://www.ncbi.nlm.nih.gov/pubmed/20076801
http://dx.doi.org/10.3988/jcn.2009.5.4.192

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