Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined.
Klein
Christine
C
Department of Neurology, Medical University of Lübeck, Lübeck, Germany.
Liu
Liu
L
Doheny
Dana
D
Kock
Norman
N
Müller
Birgitt
B
de Carvalho Aguiar
Patricia
P
Leung
Joanne
J
de Leon
Deborah
D
Bressman
Susan B
SB
Silverman
Jeremy
J
Smith
Christopher
C
Danisi
Fabio
F
Morrison
Chris
C
Walker
Ruth H
RH
Velickovic
Miodrag
M
Schwinger
Eberhard
E
Kramer
Patricia L
PL
Breakefield
Xandra O
XO
Brin
Mitchell F
MF
Ozelius
Laurie J
LJ
D001483:Base Sequence / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000235:genetics*; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017448:Receptors, Dopamine D2 / Q000235:genetics; D049031:Sarcoglycans
D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D017448:Receptors, Dopamine D2; D049031:Sarcoglycans; C108175:TOR1A protein, human