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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
|
21131290 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |