SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
Disease: Myoclonic dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 Biomarker disease BEFREE Myoclonus-dystonia is a clinical syndrome corresponding to the phenotype linked to SGCE, the main causative gene. 29952836 2018
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE A mutation in the DYT11 gene underlies half of MD cases. 23474191 2013
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. 18571946 2009
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 Biomarker disease BEFREE The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the SGCE gene is responsible for some cases of myoclonus-dystonia syndrome. 20684011 2010
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. 18355305 2008
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 AlteredExpression disease BEFREE This finding suggests that maternally inherited myoclonus-dystonia may not result from maternal expression of SGCE. 16099459 2005
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. 12707948 2003
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. 12743249 2003
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Myoclonus-dystonia with a proven SGCE mutation. 24638021 2014
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
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
CUI: C1834570
Disease: Myoclonic dystonia
Myoclonic dystonia 		1.000 GeneticVariation disease BEFREE Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D. 15258227 2004