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Article

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.

PloS one - 1 Jan 2013

Salih Mustafa A, Mundwiller Emeline, Khan Arif O, AlDrees Abdulmajeed, Elmalik Salah A, Hassan Hamdy H, Al-Owain Mohammed, Alkhalidi Hisham M S, Katona Istvan, Kabiraj Mohammad M, Chrast Roman, Kentab Amal Y, Alzaidan Hamad, Rodenburg Richard J, Bosley Thomas M, Weis Joachim, Koenig Michel, Stevanin Giovanni, Azzedine Hamid

Abstract excerpt

Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation is so far unknown which impairs both genetic di...

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Identifiers

PMID: 24130795
DOI: 10.1371/journal.pone.0076831
PMCID: PMC3792983

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24130795-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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