1.
Mov Disord
; 23(10): 1472-5, 2008 Jul 30.
Article
in English
| MEDLINE
| ID: mdl-18581468
ABSTRACT
In a Chinese myoclonus-dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the epsilon-sarcoglycan (SGCE) gene, leading to a frameshift with a down stream stop codon. Low SGCE mRNA levels were detected in the mutation carriers by real-time PCR, suggesting that the nonsense mutation might interfere with the stability of SGCE mRNA. This is the first report on Chinese with a SGCE mutation leading to MDS. Our data support the fact that same mutation of SGCE gene can lead to a varied phenotype, even in the same family.
Subject(s)
Codon, Nonsense , Dystonic Disorders/genetics , Frameshift Mutation , Myoclonus/genetics , Sarcoglycans/genetics , Adolescent , Child , China/epidemiology , Dystonic Disorders/ethnology , Exons/genetics , Female , Heterozygote , Humans , Introns/genetics , Male , Mutagenesis, Insertional , Myoclonus/ethnology , Pedigree , Phenotype , Polymerase Chain Reaction , Polymorphism, Single Nucleotide , RNA Stability , RNA, Messenger/genetics , RNA, Messenger/metabolism , Sarcoglycans/physiology
2.
Mov Disord
; 22(8): 1208-9, 2007 Jun 15.
Article
in English
| MEDLINE
| ID: mdl-17394244
Subject(s)
Dystonia/genetics , Mutation/genetics , Myoclonus/genetics , Sarcoglycans/genetics , Adult , Brazil , DNA Mutational Analysis , Disease Progression , Dystonia/complications , Dystonia/ethnology , Gene Expression , Genotype , Humans , Male , Microsatellite Repeats , Myoclonus/complications , Myoclonus/ethnology
3.
Mov Disord
; 22(8): 1206-7, 2007 Jun 15.
Article
in English
| MEDLINE
| ID: mdl-17394247