Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

BACKGROUND: Action myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function mutations in SCARB2. We studied a German AMRF family, additionally showing signs...

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Detalles Bibliográficos
Autores principales: Hopfner, Franziska, Schormair, Barbara, Knauf, Franziska, Berthele, Achim, Tölle, Thomas R, Baron, Ralf, Maier, Christoph, Treede, Rolf-Detlef, Binder, Andreas, Sommer, Claudia, Maihöfner, Christian, Kunz, Wolfram, Zimprich, Friedrich, Heemann, Uwe, Pfeufer, Arne, Näbauer, Michael, Kääb, Stefan, Nowak, Barbara, Gieger, Christian, Lichtner, Peter, Trenkwalder, Claudia, Oexle, Konrad, Winkelmann, Juliane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222607/
https://www.ncbi.nlm.nih.gov/pubmed/22032306
http://dx.doi.org/10.1186/1471-2377-11-134

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222607/
https://www.ncbi.nlm.nih.gov/pubmed/22032306
http://dx.doi.org/10.1186/1471-2377-11-134

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