Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Abstract Background Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems. Disease‐causing variants in the gigaxonin gene (GAN) cause autosomal recessive giant axonal neuropathy. Facial weakness, nystagmus, sco...

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Bibliographic Details
Main Authors: Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi Akbari, Ali Reza Ronagh, Mohammad Ghafouri, Nejat Mahdieh, Pouria Mohammadi, Zahra Rezaei
Format: Article
Language:English
Published: Wiley 2023-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Giant Axonal Neuropathy
gigaxonin
WES
Online Access:https://doi.org/10.1002/mgg3.2159

Internet

https://doi.org/10.1002/mgg3.2159

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