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Article

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

American journal of medical genetics - 1 Nov 2002

Steinfeld Robert, Heim Peter, von Gregory Henning, Meyer Kerstin, Ullrich Kurt, Goebel Hans H, Kohlschütter Alfried

Abstract excerpt

We examined 26 individuals with clinical and electron microscopic signs of late infantile neuronal ceroid lipofuscinosis (LINCL). In 22 cases, we found both pathogenic alleles. Sixteen patients exclusively carried either one or a combination of the two common mutations R208X and IVS5-1G > C. In the remaining cases, four missense mutations could be detected, of which R127Q, N286S, and T353P represent novel,...

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Identifiers

PMID: 12376936
DOI: 10.1002/ajmg.10660

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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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