Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
Hedrich
K
K
Department of Neurology, University of Lübeck, Germany.
Meyer
E-M
EM
Schüle
B
B
Kock
N
N
de Carvalho Aguiar
P
P
Wiegers
K
K
Koelman
J H
JH
Garrels
J
J
Dürr
R
R
Liu
L
L
Schwinger
E
E
Ozelius
L J
LJ
Landwehrmeyer
B
B
Stoessl
A J
AJ
Tijssen
M A J
MA
Klein
C
C
D000293:Adolescent; D000328:Adult; D000483:Alleles; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000150:complications / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009207:Myoclonus / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D049031:Sarcoglycans
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans