Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal syndrome, initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decl...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Damiano, John A., Afawi, Zaid, Bahlo, Melanie, Mauermann, Monika, Misk, Adel, Arsov, Todor, Oliver, Karen L., Dahl, Hans-Henrik M., Shearer, A. Eliot, Smith, Richard J.H., Hall, Nathan E., Mahmood, Khalid, Leventer, Richard J., Scheffer, Ingrid E., Muona, Mikko, Lehesjoki, Anna-Elina, Korczyn, Amos D., Herrmann, Harald, Berkovic, Samuel F., Hildebrand, Michael S.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6281347/
https://ncbi.nlm.nih.gov/pubmed/25954030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv171
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