|
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 |
SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
|
16365872 |
2006 |
|
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 |
GENOMICS_ENGLAND |
SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
|
16365872 |
2006 |
|
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 |
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 |
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 |
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 |
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).
|
12207930 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Eichsfeld type congenital muscular dystrophy
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Congenital Fiber Type Disproportion
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
|
23394784 |
2013 |
|
Congenital Fiber Type Disproportion
|
0.750 |
Biomarker
|
disease |
BEFREE |
Selenoprotein N-related myopathy (SEPN1-RM) is an early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity and can result in specific pathological entities such as multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and congenital fiber-type disproportion.
|
20937510 |
2011 |
|
Congenital Fiber Type Disproportion
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1, SEPN1, RYR1 and TPM3 genes.
|
20951040 |
2010 |
|
Congenital Fiber Type Disproportion
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases.
|
19953533 |
2010 |
|
Congenital Fiber Type Disproportion
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.
|
17951086 |
2008 |
|
Congenital Fiber Type Disproportion
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
To date, mutation of ACTA1 and SEPN1 has been associated with CFTD, but the genetic basis in most patients is unclear.
|
18300303 |
2008 |