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Dokumenttyp:
journal article 
Autor(en):
Hopfner, F; Schormair, B; Knauf, F; Berthele, A; Tölle, TR; Baron, R; Maier, C; Treede, RD; Binder, A; Sommer, C; Maihöfner, C; Kunz, W; Zimprich, F; Heemann, U; Pfeufer, A; Näbauer, M; Kääb, S; Nowak, B; Gieger, C; Lichtner, P; Trenkwalder, C; Oexle, K; Winkelmann, J 
Titel:
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features. 
Abstract:
ABSTRACT: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 individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we s...    »
 
Zeitschriftentitel:
BMC Neurol 
Jahr:
2011 
Band / Volume:
11 
Seitenangaben Beitrag:
134 
Sprache:
eng 
TUM Einrichtung:
r Nephrologie; r Humangenetik; Neurologische Klinik und Poliklinik