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

Genes - 23 Jun 2021

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

Abstract excerpt

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 exhibited a typical phenotype associated with LINCL, except she did not present spontaneous myoclonus, her symptoms...

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Identifiers

PMID: 34201538
DOI: 10.3390/genes12070956
PMCID: PMC8307369

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