Article
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
BMC neurology - 27 Oct 2011
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
Abstract excerpt
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 of demyelinating polyneuropathy and dilated cardiomyopathy. To test the hypothesis whether isolated appearance of...
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