title: Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
authors.affiliation: Department of Neurology, University of Lübeck, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Hedrich
authors.forename: E-M
authors.initials: EM
authors.lastname: Meyer
authors.forename: B
authors.initials: B
authors.lastname: Schüle
authors.forename: N
authors.initials: N
authors.lastname: Kock
authors.forename: P
authors.initials: P
authors.lastname: de Carvalho Aguiar
authors.forename: K
authors.initials: K
authors.lastname: Wiegers
authors.forename: J H
authors.initials: JH
authors.lastname: Koelman
authors.forename: J
authors.initials: J
authors.lastname: Garrels
authors.forename: R
authors.initials: R
authors.lastname: Dürr
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: L J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: B
authors.initials: B
authors.lastname: Landwehrmeyer
authors.forename: A J
authors.initials: AJ
authors.lastname: Stoessl
authors.forename: M A J
authors.initials: MA
authors.lastname: Tijssen
authors.forename: C
authors.initials: C
authors.lastname: Klein
mesh_terms: 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
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans