Novel homozygous PANK2 mutation identified in a consanguineous Chinese pedigree with pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive neurodegenerative disorder resulting from pantothenate kinase 2 (PANK2) gene mutations. It is clinically characterized by early onset of extrapyramidal symptoms, with or without pigmentary retinopathy, optic atroph...

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Vydáno v:Biomed Rep
Hlavní autoři: Li, Yan-Fang, Li, Hong-Fu, Zhang, Yan-Bin, Wu, Ji-Min
Médium: Artigo
Jazyk:Inglês
Vydáno: D.A. Spandidos 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4950646/
https://ncbi.nlm.nih.gov/pubmed/27446545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/br.2016.715
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