Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration

Novel PANK2 mutation in the first Greek compound heterozygote patient with pantothenate-kinase-associated neurodegeneration

Pantothenate-kinase-associated neurodegeneration is the most common autosomal recessive form of neurodegeneration with brain iron accumulation. Less than 100 mutations in PANK2 gene (20p13) are responsible for classic and atypical cases. We report here the first Greek case of atypical pantothenate-k...

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Bibliographic Details
Main Authors: George P Paraskevas, Christos Yapijakis, Anastasia Bougea, Vasilios Constantinides, Mara Bourbouli, Eleftherios Stamboulis, Elisabeth Kapaki
Format: Article
Language:English
Published: SAGE Publishing 2017-07-01
Series:SAGE Open Medical Case Reports
Online Access:https://doi.org/10.1177/2050313X17720101

Internet

https://doi.org/10.1177/2050313X17720101

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