Počet záznamov: 1
neuropatia, s obrovskými axónmi
Heslo neuropatia, s obrovskými axónmi Heslo anglicky Giant Axonal Neuropathy Odkazy neuropatia axonálna, s obrovskými axónmi
neuropatia s obrovskými axónmi (GAN)
neuropatia so zväčšenými axónmi
neuropatia s obrovskými axónmi, typ 1
neuropatia obrovskoaxónová, typ1 (GAN1)Angl. X odkazy Giant Axonal Neuropathy (GAN)
Giant Axonal Neuropathy 1
Giant Axonal Neuropathy 1 (GAN1)
Neuropathy, Giant AxonalVysvetľujúca pozn. v angl. 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). 
predmetové heslo
Počet záznamov: 1