CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

CLN8 is a ubiquitously expressed membrane-spanning protein that localizes primarily in the ER, with partial localization in the ER-Golgi intermediate compartment. Mutations in CLN8 cause late-infantile neuronal ceroid lipofuscinosis (LINCL). We describe a female pediatric patient with LINCL. She exh...

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Detalles Bibliográficos
Autores principales: Badura-Stronka, Magdalena, Winczewska-Wiktor, Anna, Pietrzak, Anna, Hirschfeld, Adam Sebastian, Zemojtel, Tomasz, Wołyńska, Katarzyna, Bednarek-Rajewska, Katarzyna, Seget-Dubaniewicz, Monika, Matheisel, Agnieszka, Latos-Bielenska, Anna, Steinborn, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307369/
https://www.ncbi.nlm.nih.gov/pubmed/34201538
http://dx.doi.org/10.3390/genes12070956

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8307369/
https://www.ncbi.nlm.nih.gov/pubmed/34201538
http://dx.doi.org/10.3390/genes12070956

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