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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Detalles Bibliográficos
Autores principales: Paraskevas, George P, Yapijakis, Christos, Bougea, Anastasia, Constantinides, Vasilios, Bourbouli, Mara, Stamboulis, Eleftherios, Kapaki, Elisabeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521331/
https://www.ncbi.nlm.nih.gov/pubmed/28781879
http://dx.doi.org/10.1177/2050313X17720101

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521331/
https://www.ncbi.nlm.nih.gov/pubmed/28781879
http://dx.doi.org/10.1177/2050313X17720101

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