CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.|Department of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.
Vera
V
Tadic
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Christine
C
Klein
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Frauke
F
Hinrichs
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Alexander
A
Münchau
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Katja
K
Lohmann
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. norbert.brueggemann@neuro.uni-luebeck.de.|Department of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany. norbert.brueggemann@neuro.uni-luebeck.de.
Norbert
N
Brüggemann
D000328:Adult; D002154:Calpain / Q000235:genetics*; D002524:Cerebellar Ataxia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009128:Muscle Spasticity / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation / Q000235:genetics*
D002154:Calpain; C484806:CAPN1 protein, human