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Article

PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

American journal of human genetics - 1 Nov 2006

Khateeb Shareef, Flusser Hagit, Ofir Rivka, Shelef Ilan, Narkis Ginat, Vardi Gideon, Shorer Zamir, Levy Rachel, Galil Aharon, Elbedour Khalil, Birk Ohad S

Abstract excerpt

Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive progressive neurodegenerative disease that presents within the first 2 years of life and culminates in death by age 10 years. Affected individuals from two unrelated Bedouin Israeli kindreds were studied. Brain imaging demonstrated...

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Identifiers

PMID: 17033970
DOI: 10.1086/508572
PMCID: PMC1698558

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17033970-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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