Article
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Neuromuscular disorders : NMD - 1 Aug 2007
Koop Olga, Schirmacher Anja, Nelis Eva, Timmerman Vincent, De Jonghe Peter, Ringelstein Bernd, Rasic Vedrana Milic, Evrard Philippe, Gärtner Jutta, Claeys Kristl G, Appenzeller Silke, Rautenstrauss Bernd, Hühne Kathrin, Ramos-Arroyo Maria A, Wörle Helmut, Moilanen Jukka S, Hammans Simon, Kuhlenbäumer Gregor
Abstract excerpt
Giant axonal neuropathy (GAN, MIM: 256850) is a devastating autosomal recessive disorder characterized by an early onset severe peripheral neuropathy, varying central nervous system involvement and strikingly frizzly hair. Giant axonal neuropathy is usually caused by mutations in the gigaxonin gene (GAN) but genetic heterogeneity has been demonstrated for a milder variant of this disease. Here, we report ten...
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