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

• Main Authors: Amir Hasan Habibi (Author), Saeed Razmeh (Author), Omid Aryani (Author), Mohammad Rohani (Author), Laleh Taghavian (Author), Elham Alizadeh (Author), Karim Moradian Kokhedan (Author), Maryam Zaribafian (Author)
• Format: Book
• Published: MDPI AG, 2019-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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,...