Number of the records: 1
neuropatia, s obrovskými axónmi
Subject h. neuropatia, s obrovskými axónmi Subject h. Giant Axonal Neuropathy Entry terms neuropatia axonálna, s obrovskými axónmi
neuropatia s obrovskými axónmi (GAN)
neuropatia so zväčšenými axónmi
neuropatia s obrovskými axónmi, typ 1
neuropatia obrovskoaxónová, typ1 (GAN1)English X references Giant Axonal Neuropathy (GAN)
Giant Axonal Neuropathy 1
Giant Axonal Neuropathy 1 (GAN1)
Neuropathy, Giant AxonalScope note in English Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS). 
subject heading
Number of the records: 1