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

<i>CLN8</i> 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 <i>CLN8</i> cause late-infantile neuronal ceroid lipofuscinosis (LINCL). We describe a female pediatric patient...

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Bibliographic Details
Main Authors: Magdalena Badura-Stronka, Anna Winczewska-Wiktor, Anna Pietrzak, Adam Sebastian Hirschfeld, Tomasz Zemojtel, Katarzyna Wołyńska, Katarzyna Bednarek-Rajewska, Monika Seget-Dubaniewicz, Agnieszka Matheisel, Anna Latos-Bielenska, Barbara Steinborn
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
<i>CLN8</i>
LINCL
lipofuscinosis
mutation
neuronal
ceroid
Online Access:https://www.mdpi.com/2073-4425/12/7/956

Internet

https://www.mdpi.com/2073-4425/12/7/956

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