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

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, scoliosis,...

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Detalles Bibliográficos
Autores principales: Ashrafi, Mahmoud Reza, Dehnavi, Ali Zare, Tavasoli, Ali Reza, Heidari, Morteza, Ghahvechi Akbari, Masoud, Ronagh, Ali Reza, Ghafouri, Mohammad, Mahdieh, Nejat, Mohammadi, Pouria, Rezaei, Zahra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265088/
https://www.ncbi.nlm.nih.gov/pubmed/36866531
http://dx.doi.org/10.1002/mgg3.2159

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265088/
https://www.ncbi.nlm.nih.gov/pubmed/36866531
http://dx.doi.org/10.1002/mgg3.2159

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