A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab–Israeli family

Abstract Giant axonal neuropathy is a severe autosomal recessive neurodegenerative disorder of childhood that affects both the peripheral and central nervous systems. It is caused by mutations in the GAN gene linked to chromosome 16q24.1 At least 45 distinct disease-causing mutations have been ident...

Ausführliche Beschreibung