Neurology. 2002 Apr 23;58(8):1273-6.

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

Kuhlenbäumer G, Young P, Oberwittler C, Hünermund G, Schirmacher A, Domschke K, Ringelstein B, Stögbauer F.

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Department of Neurology, University of Münster, Germany.

Erratum in

Neurology 2002 May 14;58(9):1444.

Abstract

Giant axonal neuropathy (GAN) is an autosomal recessive neurologic disorder clinically characterized by a severe polyneuropathy, CNS abnormalities, and characteristic tightly curled hair. Recently, mutations in the gigaxonin gene have been identified as the underlying genetic defect. The authors report two novel mutations confirming that GAN is caused by mutations in the gigaxonin gene and raise the question whether some mutations may cause a mild subclinical neuropathy.

Comment in

Intermediate filaments: a common thread in neuromuscular disorders. [Neurology. 2002]
Intermediate filaments: a common thread in neuromuscular disorders.Herrmann DN, Griffin JW. Neurology. 2002 Apr 23; 58(8):1141-3.

PMID:: 11971098; [PubMed - indexed for MEDLINE]

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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. [Nat Genet. 2000]
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Cited by 7 PubMed Central articles

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