MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
|
11791205 |
2002 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Identification of pathogenic mutations in the human rapsyn gene.
|
12730725 |
2003 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
|
12796535 |
2003 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
|
12807980 |
2003 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
|
14659409 |
2004 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
|
15036330 |
2004 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.
|
15328566 |
2004 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
|
15482960 |
2004 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
|
16945936 |
2006 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Unusual features in a boy with the rapsyn N88K mutation.
|
17190963 |
2006 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
|
18179903 |
2008 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
|
19620612 |
2009 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
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, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
|
21305573 |
2011 |