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

• 主要な著者: Amir Hasan Habibi (著者), Saeed Razmeh (著者), Omid Aryani (著者), Mohammad Rohani (著者), Laleh Taghavian (著者), Elham Alizadeh (著者), Karim Moradian Kokhedan (著者), Maryam Zaribafian (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2019-03-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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,...