The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?
Brüggemann
N
N
Department of Neurology, University of Lübeck, Germany.
Kock
N
N
Lohmann
K
K
König
I R
IR
Rakovic
A
A
Hagenah
J
J
Schmidt
A
A
Ziegler
A
A
Jabusch
H C
HC
Siebner
H
H
Altenmüller
E
E
Münchau
A
A
Klein
C
C
D000328:Adult; D000368:Aged; D001764:Blepharospasm / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D020821:Dystonic Disorders / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D005192:Family Health; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D019683:Penetrance; D011110:Polymorphism, Genetic / Q000235:genetics*; D014103:Torticollis / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
D018832:Molecular Chaperones; C108175:TOR1A protein, human