An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation

Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14). NCL is a part of the lysosomal disease characterized by the presence of neuronal and extraneural autofluorescent lipopigme...

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Autores principales:	Shahin Koohmanaee, Seyyedeh Azadeh Hoseini Nouri, Vahid Aminzadeh, Manijeh Tabrizi, Reza Bayat, Fatemeh Kharaee, Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, Setila Dalili, Ehsan Kazemnejad Leili
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Guilan University of Medical Sciences 2023-01-01
Colección:	Caspian Journal of Neurological Sciences
Materias:	neuronal ceroid-lipofuscinoses phenotype mutation vision disorders
Acceso en línea:	https://cjns.gums.ac.ir/article-1-589-en.pdf
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