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Article

Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.

Journal of medical genetics - 1 Aug 2013

Köroğlu Çiğdem, Seven Mehmet, Tolun Aslihan

Abstract excerpt

BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a recessive disease that results in total neurological degeneration and death in childhood. PLA2G6 mutation is the underlying genetic defect, but rare genetic heterogeneity has been demonstrated. One of the five families we studied did not link to PLA2G6 locus, and in the family one of the two affected siblings additionally had atypical features including...

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Identifiers

PMID: 23749988
DOI: 10.1136/jmedgenet-2013-101634

Genes

NALCN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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