Article
Giant axonal neuropathy: clinical and genetic study in six cases.
Journal of neurology, neurosurgery, and psychiatry - 1 Jun 2005
Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G, Muftuoglu S, Cakar A N, Tan E, Aysun S, Topcu M, Guicheney P, Koenig M, Topaloglu H
Abstract excerpt
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. AIMS: To search for GAN gene mutations in Turkish patients with GAN and characterise the phenotype associated with them. METHODS:...
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