title: Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
abstract: 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.
authors.affiliation: Department of Neurology, Medical University of Lübeck, Lübeck, Germany.
authors.forename: Christine
authors.initials: C
authors.lastname: Klein
authors.forename: Liu
authors.initials: L
authors.lastname: Liu
authors.forename: Dana
authors.initials: D
authors.lastname: Doheny
authors.forename: Norman
authors.initials: N
authors.lastname: Kock
authors.forename: Birgitt
authors.initials: B
authors.lastname: Müller
authors.forename: Patricia
authors.initials: P
authors.lastname: de Carvalho Aguiar
authors.forename: Joanne
authors.initials: J
authors.lastname: Leung
authors.forename: Deborah
authors.initials: D
authors.lastname: de Leon
authors.forename: Susan B
authors.initials: SB
authors.lastname: Bressman
authors.forename: Jeremy
authors.initials: J
authors.lastname: Silverman
authors.forename: Christopher
authors.initials: C
authors.lastname: Smith
authors.forename: Fabio
authors.initials: F
authors.lastname: Danisi
authors.forename: Chris
authors.initials: C
authors.lastname: Morrison
authors.forename: Ruth H
authors.initials: RH
authors.lastname: Walker
authors.forename: Miodrag
authors.initials: M
authors.lastname: Velickovic
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schwinger
authors.forename: Patricia L
authors.initials: PL
authors.lastname: Kramer
authors.forename: Xandra O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: Mitchell F
authors.initials: MF
authors.lastname: Brin
authors.forename: Laurie J
authors.initials: LJ
authors.lastname: Ozelius
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D017448:Receptors, Dopamine D2; D049031:Sarcoglycans; C108175:TOR1A protein, human