Article
Lafora disease due to EPM2B mutations: a clinical and genetic study.
Neurology - 22 Mar 2005
Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari C A, Rodríguez de Córdoba S, Serratosa J M
Abstract excerpt
OBJECTIVE: To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease. METHODS: The authors performed a clinical and mutational analysis of 25 patients, from 23 families, diagnosed with Lafora disease who had not shown mutations in the EPM2A gene. RESULTS: The authors identified 18 mutations in EPM2B, including 12 novel mutations: 4 nonsense mutations (R265X, C26X, W219X,...
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