A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir – India

Abstract Pantothenate kinase-associated neurodegeneration is a rare hereditary neurodegenerative disorder associated with nucleotide variation(s) in mitochondrial human Pantothenate kinase 2 (hPanK2) protein encoding PANK2 gene, and is characterized by symptoms of extra-pyramidal dysfunction and acc...

Full description

Bibliographic Details
Main Authors: Arshia Angural, Inderpal Singh, Ankit Mahajan, Pranav Pandoh, Manoj K Dhar, Sanjana Kaul, Vijeshwar Verma, Ekta Rai, Sushil Razdan, Kamal Kishore Pandita, Swarkar Sharma
Format: Article
Language:English
Published: Nature Publishing Group 2017-07-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-05388-9