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Article

Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Zhong N, Moroziewicz D N, Ju W, Jurkiewicz A, Johnston L, Wisniewski K E, Brown W T

Abstract excerpt

PURPOSE: Late-infantile neuronal ceroid lipofuscinosis (LINCL), an autosomal recessively inherited lysosomal storage disorder characterized by autofluorescent inclusions and rapid progression of neurodegeneration, is due to CLN2 gene mutations. However, CLN2 mutation analysis has failed to identify some clinically diagnosed "late-infantile" NCL cases. This study was conducted to further characterize genetic...

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Source

Identifiers

PMID: 11339651
DOI: 10.1097/00125817-200011000-00002

Genes

NCL
CLN3

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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