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Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion |
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| Authors: | 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 |
| Affiliation: | 1.Neurology Department, APHP, CHU de Bicêtre, 78 rue du Général Leclerc, 94276, Le Kremlin-Bicêtre Cedex, France ;2.French National Reference Center for Rare Neuropathies (NNERF), 94276, Le Kremlin-Bicêtre, France ;3.INSERM U1195 Paris-Sud University, 94276, Le Kremlin-Bicêtre, France ;4.Pediatrics Department, CHU de Lille, Lille, France ;5.Genetics Department, CHU de Rouen, Rouen, France ;6.Department of Pediatric Neurology, APHP, Bicêtre University Hospital, Le Kremlin-Bicêtre, France ;7.Paris-Sud University, Inserm U 1169, Le Kremlin-Bicêtre, France ;8.Department of Neurology, Hôpitaux Universitaires, 67098, Strasbourg, France ;9.INSERM U1119, FMTS, UDS, Strasbourg, France ;10.Constantine, Algeria ;11.Genetics Department, APHP, Robert Debré Hospital, Paris, France ;12.Department of Pediatrics, OPGI complex, Ain Temouchent, Algeria ;13.Biology and Pathology Department, Hospices Civils, Lyon, Bron, France ;14.Department of Molecular Genetics Pharmacogenomics and Hormonology, APHP, CHU de Bicêtre, 94276, Le Kremlin-Bicêtre, France ; |
| Abstract: | neurogenetics - Giant axonal neuropathy (GAN) is an autosomal recessive disease caused by mutations in the GAN gene encoding gigaxonin. Patients develop a progressive sensorimotor neuropathy... |
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