Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases

Background: Giant axonal neuropathy (GAN) is a very rare fatal neurodegenerative disorder with clinical and allelic heterogeneity. The disease is caused by mutations in the GAN (gigaxonin) gene. Herein, we reported the clinical presentations and results of genetic analysis of the first Iranian GAN c...

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Detalles Bibliográficos
Autores principales: Vafaee-Shahi, Mohammad, Ghasemi, Saeideh, Ghahvechi-Akbar, Masood, Tahernia, Leila, Davarzani, Atefeh, Hajati, Reza, Zare-Abdollahi, Davood, Alavi, Afagh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2020
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236428/
http://dx.doi.org/10.18502/cjn.v19i4.5548

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236428/
http://dx.doi.org/10.18502/cjn.v19i4.5548

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