|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two sisters with CFTD were homozygous for the 943G-->A SEPN1 mutation and had clinical features typical of previously reported patients with SEPN1-related myopathy.
|
16365872 |
2006 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This data highlights the importance of the SRE element during SelN expression and illustrates a novel molecular mechanism by which point mutations may lead to SEPN1-related myopathy.
|
19067361 |
2009 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.
|
17951086 |
2008 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
The other families were excluded from RSMD1, and the patients presented highly variable phenotypes suggesting the involvement of more than one gene defect in rigid spine syndrome.
|
10545040 |
1999 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic disorders caused by Col6A1, Col6A2, and Col6A3 mutations, the autosomal dominant form of Emery-Dreifuss muscular dystrophy (LMNA defects) and calpain-deficient limb girdle muscular dystrophy (CAPN3 defects).
|
20225280 |
2010 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
|
16365872 |
2006 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
|
16365872 |
2006 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
SEPN1-related myopathies: clinical course in a large cohort of patients.
|
21670436 |
2011 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
SEPN1-related myopathies: clinical course in a large cohort of patients.
|
21670436 |
2011 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.
|
18713863 |
2008 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.
|
18713863 |
2008 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
|
21131290 |
2011 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.
|
15668457 |
2005 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.
|
15668457 |
2005 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our objective was to clarify the role of SelN and the pathophysiology of SEPN1-RM to identify therapeutic targets.
|
19557870 |
2009 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
On the basis of clinical and morphological data, we suspected a relationship between classical MmD and the selenoprotein N gene (SEPN1), which is located on chromosome 1p36 (RSMD1 locus) and is responsible for the congenital muscular dystrophy with rigid spine syndrome (RSMD).
|
12192640 |
2002 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
On the basis of clinical and morphological data, we suspected a relationship between classical MmD and the selenoprotein N gene (SEPN1), which is located on chromosome 1p36 (RSMD1 locus) and is responsible for the congenital muscular dystrophy with rigid spine syndrome (RSMD).
|
12192640 |
2002 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
On the basis of clinical and morphological data, we suspected a relationship between classical MmD and the selenoprotein N gene (SEPN1), which is located on chromosome 1p36 (RSMD1 locus) and is responsible for the congenital muscular dystrophy with rigid spine syndrome (RSMD).
|
12192640 |
2002 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of SEPN1 gene are associated with autosomal recessive RSMD1.
|
27863379 |
2016 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human SEPN1 gene, encoding selenoprotein N (SepN), cause SEPN1-related myopathy (SEPN1-RM) characterized by muscle weakness, spinal rigidity, and respiratory insufficiency.
|
23325319 |
2013 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in selenoprotein N (SEPN1) lead to a spectrum of disorders collectively called SEPN1-related myopathy, and mutations in glutathione peroxidase 4 (GPX4) cause respiratory failure and bone defects, and mutations in thioredoxin reductase 2 (TXNRD2) are associated with familial glucocorticoid deficiency.
|
27473727 |
2016 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
|
27447704 |
2017 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
|
16779558 |
2006 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Inherited defects of the reductase selenoprotein N in SEPN1-related myopathy leads to chronic OxS of monogenic origin as a primary disease pathomechanism.
|
27531051 |
2017 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
MGD |
Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.
|
21858002 |
2011 |