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Article

First case of genetically confirmed CLN3 disease in Chinese with cDNA sequencing revealing pathogenicity of a novel splice site variant.

Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2018

Lau Nike Kwai Cheung, Ching Chor Kwan, Lee Hencher Han Chih, Chak Wai Kwong Mario, Kwan Shing Ng, Hanchard Neil A, Mak Chloe Miu

Abstract excerpt

BACKGROUND: Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a hereditary progressive neurodegenerative disease well documented among Caucasians, but such clinical data and genetic characterization is lacking among Asian populations. PATIENT AND METHODS: A 13-year-old Chinese girl presented for diagnostic evaluation with retinitis pigmentosa, generalised tonic-clonic seizure and cerebellar ataxia....

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Source

Identifiers

PMID: 30053402
DOI: 10.1016/j.cca.2018.07.040

Genes

CLN3

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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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