Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a Norwegian family with myoclonus-dystonia and epilepsy associated with a novel SGCE mutation.
|
24297365 |
2014 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11).
|
27890709 |
2017 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the DYT11 gene underlies half of MD cases.
|
23474191 |
2013 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D) is a movement disorder that is often associated with mutations in epsilon-sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3.
|
23237735 |
2013 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 (M-D) is a very rare movement disorder, caused in ∼30-50% of cases by mutations in SGCE.
|
26157024 |
2015 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe two unrelated children with M-D (DYT11) who presented with writer's cramp.
|
18571946 |
2009 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations were found in 26% (9/35) of the cases, all but three with definite M-D. Two heterozygous deletions of the entire SGCE gene and flanking DNA and a heterozygous deletion of exon 2 only were detected, accounting for 33% (3/9) of the mutations found.
|
18205193 |
2008 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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.
|
12402271 |
2002 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
|
17200151 |
2007 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations.
|
18355305 |
2008 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
|
18175340 |
2008 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations.
|
25643588 |
2015 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.
|
12707948 |
2003 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition.
|
15389977 |
2004 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We established a cohort of patients with myoclonus dystonia syndrome and SGCE mutations to determine the extent to which psychiatric disorders form part of the disease phenotype.
|
23365103 |
2013 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the SGCE gene revealed a novel nonsense mutation c.942C>A (p.Tyr314X) in exon 7, confirming the diagnosis of myoclonus dystonia.
|
19147379 |
2009 |
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 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D.
|
15258227 |
2004 |