Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In the definite M-D group, 50% carried an SGCE mutation and one single patient in the probable group (4%).
|
19066193 |
2009 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome.
|
12743249 |
2003 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
|
16227522 |
2006 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia with a proven SGCE mutation.
|
24638021 |
2014 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D, DYT11) is a dystonia plus syndrome characterized by brief myoclonic jerks predominantly of neck and upper limbs in combination with focal or segmental dystonia.
|
17898012 |
2007 |
Myoclonic dystonia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Loss of imprinting in the patient with M-D who had biallelic expression of the SGCE gene was associated with partial loss of methylation at several CpG dinucleotides.
|
12444570 |
2002 |
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability.
|
29607243 |
2018 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D.
|
15258227 |
2004 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.
|
29429788 |
2018 |
Myoclonic dystonia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
|
23677909 |
2013 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia has recently been associated with mutations in the epsilon-sarcoglycan gene (SCGE) on 7q21.
|
12391355 |
2002 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study.
|
21220679 |
2011 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation.
|
28690014 |
2017 |
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.
|
21796726 |
2011 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D.
|
15258227 |
2004 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited myoclonus dystonia (M-D, DYT11) is an autosomal dominant dystonia-plus syndrome, which in many families is caused by mutations in the SGCE/(epsilon-sarcoglycan gene.
|
18702114 |
2008 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
|
18175340 |
2008 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To study striatal dopamine D(2) receptor availability in DYT11 mutation carriers of the autosomal dominantly inherited disorder myoclonus-dystonia (M-D).
|
18719906 |
2009 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family).
|
12391346 |
2002 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Physical symptoms of myoclonus dystonia due to epsilon-sarcoglycan mutations are well documented; however, the progression of neuropsychiatric and cognitive symptoms remains unclear.
|
26652670 |
2016 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The physiology and surgical response for a 63-year-old woman who underwent GPi DBS for M-D with onset at age 2 and related to a mutation in the epsilon-sarcoglycan gene (SGCE) is described.
|
19896264 |
2010 |
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome.
|
12325078 |
2002 |
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
|
25209853 |
2014 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As the epsilon sarcoglycan (SGCE) gene for M-D was subsequently identified, we evaluated the relationship between psychiatric features and SGCE mutations in these original and two additional families and confirm that OCD and alcohol dependence are associated with manifesting mutated SGCE.
|
17296918 |
2007 |