Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene

Here we report the clinical, neuroimaging, and molecular findings of a classic pantothenate kinase-associated neurodegeneration (PKAN) patient of Turkish origin. Our patient is the first reported case of PKAN in Turkey with molecular genetic confirmation of the diagnosis. The frameshift mutat...

Full description

Saved in:
Bibliographic Details
Main Authors: Hakan Cangül, Ozlem Ozdemir, Tahsin Yakut, Mehmet Okan, Neil V Morgan, Birol Baytan, Manju A Kurian, Ronald Spiegel, Eamonn R Maher
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2009-04-01
Series:The Turkish Journal of Pediatrics
Online Access:https://turkjpediatr.org/article/view/2278
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items