A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.
Christian Johannes
CJ
Hartmann
Barbara
B
Leube
Lars
L
Wojtecki
Beate
B
Betz
Stefan Jun
SJ
Groiss
Peter
P
Bauer
Alfons
A
Schnitzler
Martin
M
Südmeyer
D000328:Adult; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000235:genetics*; D005192:Family Health; D005260:Female; D005858:Germany; D006801:Humans; D009154:Mutation / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*
C526572:SGCE protein, human; D049031:Sarcoglycans
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