title: The epsilon-sarcoglycan gene in myoclonic syndromes.
abstract: Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic/dystonic syndromes for SGCE mutations. We found mutations (three of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.
authors.affiliation: IRCCS CSS, San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy.
authors.forename: E M
authors.initials: EM
authors.lastname: Valente
authors.forename: M J
authors.initials: MJ
authors.lastname: Edwards
authors.forename: P
authors.initials: P
authors.lastname: Mir
authors.forename: A
authors.initials: A
authors.lastname: DiGiorgio
authors.forename: S
authors.initials: S
authors.lastname: Salvi
authors.forename: M
authors.initials: M
authors.lastname: Davis
authors.forename: N
authors.initials: N
authors.lastname: Russo
authors.forename: M
authors.initials: M
authors.lastname: Bozi
authors.forename: H-T
authors.initials: HT
authors.lastname: Kim
authors.forename: G
authors.initials: G
authors.lastname: Pennisi
authors.forename: N
authors.initials: N
authors.lastname: Quinn
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: K P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D017668:Age of Onset; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D020821:Dystonic Disorders / Q000453:epidemiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005799:Genes, Dominant; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009207:Myoclonus / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics* / Q000502:physiology; D017384:Sequence Deletion
chemical_list: D022821:RNA Splice Sites; D049031:Sarcoglycans