- Case Report
A Novel Homozygous Variation in the PANK2 Gene in Two Persian Siblings with Atypical Pantothenate Kinase Associated Neurodegeneration
- Amir Hasan Habibi,
- Saeed Razmeh,
- Omid Aryani,
- Mohammad Rohani,
- Laleh Taghavian,
- Elham Alizadeh,
- Karim Moradian Kokhedan and
- Maryam Zaribafian
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,...

