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Article

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

Scientific reports - 5 Jul 2017

Angural Arshia, Singh Inderpal, Mahajan Ankit, Pandoh Pranav, Dhar Manoj K, Kaul Sanjana, Verma Vijeshwar, Rai Ekta, Razdan Sushil, Kishore Pandita Kamal, Sharma Swarkar

Abstract excerpt

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 accumulation of non-heme iron predominantly in the basal ganglia of the brain. In this study, we describe a familial case of...

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Identifiers

PMID: 28680084
DOI: 10.1038/s41598-017-05388-9
PMCID: PMC5498598

Genes

PANK2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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