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Article

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

Neurology - 16 Feb 2010

Xin W, Mullen T E, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole S E, Goebel H H, Sims K

Abstract excerpt

OBJECTIVES: To explore a potential expansion of the phenotypic and genotypic characteristics of Finnish variant late-infantile neuronal ceroid lipofuscinosis (NCL), we screened a collection of 47 patients with clinically diagnosed NCL in whom no molecular diagnosis had been made. METHODS: We used PCR amplification of genomic DNA, followed by fluorescent-labeled dideoxy-nucleotide chain termination sequencing and...

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Source

Identifiers

PMID: 20157158
DOI: 10.1212/WNL.0b013e3181cff70d

Genes

CLN5
NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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