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Title: Unverricht-Lundborg disease: Homozygosity for a new splicing mutation in the cystatin B gene
Author: Pinto, Eugenia
Freitas, Joel
Duarte, Ana Joana
Ribeiro, Isaura
Lima, JL
Chaves, Joao
Amaral, Olga
Keywords: Doenças Genéticas
Issue Date: Dec-2011
Publisher: Elsevier
Citation: Epilepsy Res. 2011 Dec 9. [Epub ahead of print]
Abstract: Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence. This is one of the few cases of homozygosity for a non-classic mutation and adds to mutational heterogeneity of CSTB.
Description: AJD and DR are both recipients of FCT grants.
Peer review: yes
ISSN: 0920-1211
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Appears in Collections:DGH - Artigos em revistas internacionais

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