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...
Main Authors: | , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2017-07-01
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Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-017-05388-9 |