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Article

A novel CLN5 mutation in Turkish patient with variant late-onset neuronal ceroid lipofuscinosis and recurrent fractures that causes severe morbidity.

Neurocase - 1 Dec 2021

Duz Mehmet Bugrahan

Abstract excerpt

Neuronal ceroid lipofuscinosis (NCL) is characterized by ataxia, epilepsy, mental and motor deterioration, and visual loss. The phenotype of patients is highly heterogeneous. We report a patient with late-infantile-onset psychomotor retardation, visual loss, seizure, movement disorder, and recurrent bone fractures. Clinical exome sequencing revealed a novel homozygous c.1113_1116del, p.Y371fs mutation in CLN5. No...

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Identifiers

PMID: 34678132
DOI: 10.1080/13554794.2021.1993264

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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