Three siblings with giant axonal neuropathy caused by a novel variant in GAN gene: the first report from Egypt

Three siblings with giant axonal neuropathy caused by a novel variant in GAN gene: the first report from Egypt

Abstract Background Giant axonal neuropathy (GAN) is a rare inherited neurodegenerative disease that affects the peripheral and central nervous systems. Herein, we describe three Egyptian siblings with GAN who showed differences in clinical severity. Case Presentation. Case 1 had slowly progressive...

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Bibliographic Details
Main Authors: Abdelrahim A. Sadek, Mohammed A. Aladawy, Tarek M. M. Mansour, Ali Farag El Hadad, Abd Elaziz Shokry, Rin Khang, Seung Woo Ryu, Elsayed Abdelkreem
Format: Article
Language:English
Published: SpringerOpen 2025-07-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Giant axonal neuropathy
GAN
Genotype
Phenotype
Variant
Online Access:https://doi.org/10.1186/s43042-025-00755-y
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