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Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease

18 Aug 2011

Abstract excerpt

Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by visual loss, epilepsy and psychomotor deterioration. Although most CLN3 patients carry the same 1-kb deletion in the CLN3 gene, their disease phenotype can be variable. The aims of this study were to (i) study the clinical phenotype in CLN3 patients with identical genotype, (ii)...

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PMID: 21863212
DOI: 10.2119/molmed.2010.00241

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