REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations....

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Detalhes bibliográficos
Main Authors: Beetz, Christian, Schüle, Rebecca, Deconinck, Tine, Tran-Viet, Khanh-Nhat, Zhu, Hui, Kremer, Berry P. H., Frints, Suzanna G. M., van Zelst-Stams, Wendy A. G., Byrne, Paula, Otto, Susanne, Nygren, Anders O. H., Baets, Jonathan, Smets, Katrien, Ceulemans, Berten, Dan, Bernard, Nagan, Narasimhan, Kassubek, Jan, Klimpe, Sven, Klopstock, Thomas, Stolze, Henning, Smeets, Hubert J. M., Schrander-Stumpel, Constance T. R. M., Hutchinson, Michael, van de Warrenburg, Bart P., Braastad, Corey, Deufel, Thomas, Pericak-Vance, Margaret, Schöls, Ludger, de Jonghe, Peter, Züchner, Stephan
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2841798/
https://ncbi.nlm.nih.gov/pubmed/18321925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awn026
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