A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity

Abstract Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene. This gene is involved in lysosomal mannose-6-phosphate-independent trafficking of β-glucocerebrosidase (GC), an enzyme deficient in...

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Veröffentlicht in:	Journal of the neurological sciences 2014-04, Vol.339 (1), p.210-213
Hauptverfasser:	Zeigler, Marsha, Meiner, Vardiella, Newman, J.P, Steiner-Birmanns, Bettina, Bargal, Ruth, Sury, Vivi, Mengistu, Getu, Kakhlon, Or, Leykin, Ina, Argov, Zohar, Abramsky, Oded, Lossos, Alexander
Format:	Artikel
Sprache:	eng
Schlagworte:	Action myoclonus renal failure syndrome Adolescent Ataxia Enzyme Activation - physiology Follow-Up Studies Gaucher disease Glucosylceramidase - metabolism Humans LIMP2 Lysosomal Membrane Proteins - genetics Male Mutation - genetics Myoclonic Epilepsies, Progressive - diagnosis Myoclonic Epilepsies, Progressive - enzymology Myoclonic Epilepsies, Progressive - genetics Neurology Pedigree Progressive myoclonus epilepsy Receptors, Scavenger - genetics SCARB2
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