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Article

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.

Neurogenetics - 1 Jan 2020

Echaniz-Laguna Andoni, Cuisset Jean-Marie, Guyant-Marechal Lucie, Aubourg Patrick, Kremer Laurent, Baaloul Naziha, Verloes Alain, Beladgham Kouider, Perrot Jimmy, Francou Bruno, Latour Philippe

Abstract excerpt

Giant axonal neuropathy (GAN) is an autosomal recessive disease caused by mutations in the GAN gene encoding gigaxonin. Patients develop a progressive sensorimotor neuropathy affecting peripheral nervous system (PNS) and central nervous system (CNS). Methods: In this multicenter observational retrospective study, we recorded French patients with GAN mutations, and 10 patients were identified. Mean age of patients...

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PMID: 31655922
DOI: 10.1007/s10048-019-00596-z

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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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