Giant axonal neuropathy: clinical and genetic study in six cases

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DEMIR E., BOMONT P., ERDEM S., CAVALIER L., DEMIRCI M., KOSE G., ...More

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, vol.76, no.6, pp.825-832, 2005 (SCI-Expanded, Scopus)

• Publication Type: Article / Article
• Volume: 76 Issue: 6
• Publication Date: 2005
• Doi Number: 10.1136/jnnp.2003.035162
• Journal Name: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.825-832
• Open Archive Collection: AVESIS Open Access Collection
• Hacettepe University Affiliated: Yes

Abstract

Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly'' hair. The disease is caused by GAN gene mutations on chromosome 16q24.1.