|
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 |
Biomarker
|
disease |
BEFREE |
Selenoprotein N (SELENON) is an endoplasmic reticulum (ER) protein whose loss of function leads to a congenital myopathy associated with insulin resistance (SEPN1-related myopathy).
|
30921636 |
2019 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
|
23217329 |
2012 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
|
19067361 |
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 |
Biomarker
|
disease |
BEFREE |
A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref.1).
|
11528383 |
2001 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
In particular, mutations in the SEPN1 gene encoding selenoprotein N (SelN) cause a group of neuromuscular disorders now referred to as SEPN1-related myopathy.
|
19285112 |
2009 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this review we discuss the physiological and pathophysiological role of SelN and the interest of SEPN1-related myopathy as a model paradigm to understand and target therapeutically other selenoproteins involved in human health and disease.
|
19769461 |
2010 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.
|
16498447 |
2006 |
|
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
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 |
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 |
UNIPROT |
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
|
15122708 |
2004 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
|
16365872 |
2006 |
|
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 |
Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).
|
15792869 |
2005 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref.1).
|
11528383 |
2001 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
|
23394784 |
2013 |
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
|
21131290 |
2011 |