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Article

Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.

European journal of medical genetics - 1 Jan 2000

Nalini A, Gayathri N, Yasha T C, Ravishankar S, Urtizberea A, Huehne Kathrin, Rautenstrauss Bernd

Abstract excerpt

BACKGROUND: Giant axonal neuropathy (GAN, MIM: 256850) is characterized by an early onset of severe peripheral neuropathy, varying central nervous system involvement and strikingly frizzly hair. Mode of inheritance is autosomal recessive. Mutations in the gigaxonin (GAN) gene on chromosome 16q24.1 are frequently observed for this disorder, but genetic heterogeneity has been demonstrated for a milder variant of...

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Identifiers

PMID: 18595793
DOI: 10.1016/j.ejmg.2008.05.006

Genes

GAN

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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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Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.PMID 18595793Read ↗

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Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.Semantic proximity Read ↗

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