|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.
|
25194721 |
2014 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
|
24319099 |
2014 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
|
21305573 |
2011 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.
|
20157724 |
2010 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
|
19620612 |
2009 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
|
17594401 |
2007 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Unusual features in a boy with the rapsyn N88K mutation.
|
17190963 |
2006 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
|
16945936 |
2006 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
|
16931511 |
2006 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.
|
15286164 |
2004 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
|
15036330 |
2004 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.
|
15328566 |
2004 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Identification of pathogenic mutations in the human rapsyn gene.
|
12730725 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
|
12807980 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
|
12796535 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
|
12796535 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
|
14504330 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of pathogenic mutations in the human rapsyn gene.
|
12730725 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
|
12929188 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
|
14504330 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
|
12929188 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
|
11791205 |
2002 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
CausalMutation
|
CLINVAR |
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
|
11791205 |
2002 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|