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Article

A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses.

Acta neurologica Belgica - 1 Jun 2021

Gilani Naser, Razmara Ehsan, Ozaslan Mehmet, Abdulzahra Ihsan Kareem, Arzhang Saeid, Tavasoli Ali Reza, Garshasbi Masoud

Abstract excerpt

Mutations in CLN3 (OMIM: 607042) are associated with juvenile neuronal ceroid lipofuscinoses (JNCL)-a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration. The study aimed to determine the underlying genetic factors justifying the NCL phenotype in a large Iraqi consanguineous family. Four affected individuals with an initial diagnosis of NCL were recruited. By...

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PMID: 33783722
DOI: 10.1007/s13760-021-01655-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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