A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration

Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment,...

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Detalhes bibliográficos
Publicado no:Neurol Int
Principais autores: Habibi, Amir Hasan, Razmeh, Saeed, Aryani, Omid, Rohani, Mohammad, Taghavian, Laleh, Alizadeh, Elham, Kokhedan, Karim Moradian, Zaribafian, Maryam
Formato: Artigo
Idioma:Inglês
Publicado em: PAGEPress Publications, Pavia, Italy 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6444562/
https://ncbi.nlm.nih.gov/pubmed/30996846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/ni.2019.7959
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