Camptocormia, axial dystonia, and parkinsonism: phenotypic heterogeneity of a parkin mutation.
Inzelberg
R
R
Department of Neurology, Hillel Yaffe Medical Center, Hadera, Israel. irivka@tx.technion.ac.il
Hattori
N
N
Nisipeanu
P
P
Abo Mouch
S
S
Blumen
S C
SC
Carasso
R L
RL
Mizuno
Y
Y
D000328:Adult; D018912:Arabs / Q000235:genetics; D003241:Consanguinity; D020821:Dystonic Disorders / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000235:genetics*; D010641:Phenotype; D017384:Sequence Deletion; D014202:Tremor / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein