Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
|
12651869 |
2003 |
Myasthenic Syndromes, Congenital
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
We here report two novel E-box mutations in the RAPSN promoter region in eight congenital myasthenic syndrome patients.
|
12651869 |
2003 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
We here report two novel E-box mutations in the RAPSN promoter region in eight congenital myasthenic syndrome patients.
|
12651869 |
2003 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Humans with mutations in the rapsyn gene ( RAPSN) are affected with a postsynaptic form of congenital myasthenic syndrome (CMS) characterized by impairment of the morphologic development of the postsynaptic region.
|
12730725 |
2003 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Humans with mutations in the rapsyn gene ( RAPSN) are affected with a postsynaptic form of congenital myasthenic syndrome (CMS) characterized by impairment of the morphologic development of the postsynaptic region.
|
12730725 |
2003 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To perform mutation analysis of the RAPSN gene in patients with sporadic or autosomal recessive CMS.
|
12796535 |
2003 |
Myasthenic Syndromes, Congenital
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
|
12807980 |
2003 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
|
12807980 |
2003 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We detected six patients with CMS due to mutations in the rapsyn gene (RAPSN).
|
12929188 |
2003 |
Myasthenic Syndromes, Congenital
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
|
14504330 |
2003 |
Myasthenic Syndromes, Congenital
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
|
14729848 |
2004 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of RAPSN in two children with congenital myasthenic syndromes with no mutation in any of the AChR subunits identified two heterozygous recessive mutations in each: a previously characterized N88K mutation in both, and a second frameshifting mutation in Patient (Pt) 1 and a nonsense mutation in Pt 2.
|
15036330 |
2004 |
Myasthenic Syndromes, Congenital
|
0.500 |
AlteredExpression
|
disease |
LHGDN |
Common founder effect of rapsyn N88K studied using intragenic markers.
|
15252722 |
2004 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the rapsyn promoter revealed a consensus site for the transcription factor Kaiso within a region that is mutated in a subset of patients with congenital myasthenic syndrome.
|
15282317 |
2004 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
A sporadic CMS patient from Germany was analyzed for RAPSN mutations by RFLP, long-range PCR and sequence analysis.
|
15482960 |
2004 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
|
15482960 |
2004 |
Myasthenic Syndromes, Congenital
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A sporadic CMS patient from Germany was analyzed for RAPSN mutations by RFLP, long-range PCR and sequence analysis.
|
15482960 |
2004 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
However, absence of a N88K allele does not exclude underlying RAPSN mutations as cause of the congenital myasthenic syndromes.
|
16931511 |
2006 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, absence of a N88K allele does not exclude underlying RAPSN mutations as cause of the congenital myasthenic syndromes.
|
16931511 |
2006 |
Myasthenic Syndromes, Congenital
|
0.500 |
Biomarker
|
disease |
BEFREE |
Other AChR subunits alpha1, beta1, and delta (CHRNA1, CHRNB1, CHRND) as well as receptor-associated protein of the synapse (RAPSN) previously revealed missense or compound nonsense-missense mutations in viable congenital myasthenic syndrome; lethality of homozygous null mutations was predicted but never shown.
|
18252226 |
2008 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.
|
20157724 |
2010 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Because late-onset congenital myasthenic syndromes (CMSs) due to RAPSN or DOK7 mutations may be mistaken for SNMG, we investigated their frequency in a nationwide SNMG cohort.
|
21305573 |
2011 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.
|
22326364 |
2012 |
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study identified two confirmed pathogenic mutations in the RAPSN gene that are associated with congenital myasthenic syndrome (OMIM 608931).
|
25194721 |
2014 |
Myasthenic Syndromes, Congenital
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.
|
25792100 |
2015 |