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Article

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

Annals of neurology - 1 Feb 2006

Hartig Monika B, Hörtnagel Konstanze, Garavaglia Barbara, Zorzi Giovanna, Kmiec Tomasz, Klopstock Thomas, Rostasy Kevin, Svetel Marina, Kostic Vladimir S, Schuelke Markus, Botz Evelyn, Weindl Adolf, Novakovic Ivana, Nardocci Nardo, Prokisch Holger, Meitinger Thomas

Abstract excerpt

OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by magnetic resonance imaging (MRI) changes in basal ganglia. Both missense and nonsense mutations have been found in such patients in a gene encoding the mitochondrial pantothenate kinase (PANK...

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Identifiers

PMID: 16437574
DOI: 10.1002/ana.20771

Genes

PANK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16437574-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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