Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report

BACKGROUND: Adult neuronal ceroid lipofuscinosis (ANCL) can be caused by compound heterozygous recessive mutations in CLN6. The main clinical features of the disease are neurodegeneration, progressive motor dysfunction, seizures, cognitive decline, ataxia, vision loss and premature death. CASE SUMMA...

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Detalles Bibliográficos
Autores principales: Wang, Xue-Qiang, Chen, Chuan-Bi, Zhao, Wen-Jie, Fu, Guang-Bin, Zhai, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10294197/
https://www.ncbi.nlm.nih.gov/pubmed/37383919
http://dx.doi.org/10.12998/wjcc.v11.i15.3533

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10294197/
https://www.ncbi.nlm.nih.gov/pubmed/37383919
http://dx.doi.org/10.12998/wjcc.v11.i15.3533

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