|
Pena-Shokeir syndrome type I
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that mutations in acetylcholine receptor-related genes might also result in a MPS/fetal akinesia phenotype and so we analyzed 15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and rapsyn (RAPSN) genes.
|
18179903 |
2008 |
|
Pena-Shokeir syndrome type I
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
Pena and Shokeir described the phenotype of two sisters in 1974, and subsequently their features have become recognized as a sequence of deformational changes related to decreased or absent fetal movement (fetal akinesia deformation sequence [FADS]), because of the work of Moessinger (1983).
|
19645055 |
2009 |
|
Pena-Shokeir syndrome type I
|
0.650 |
GeneticVariation
|
disease |
BEFREE |
In the first family, FADS relates to a homozygous c.484G > A (p.Glu162Lys) mutation in the gene RAPSN.
|
28495245 |
2017 |
|
Pena-Shokeir syndrome type I
|
0.650 |
GeneticVariation
|
disease |
CLINVAR |
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
|
17594401 |
2007 |
|
Pena-Shokeir syndrome type I
|
0.650 |
GeneticVariation
|
disease |
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
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
|
11791205 |
2002 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
|
12929188 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
GeneticVariation
|
disease |
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
|
0.600 |
GeneticVariation
|
disease |
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
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
|
14504330 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
GeneticVariation
|
disease |
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
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Identification of pathogenic mutations in the human rapsyn gene.
|
12730725 |
2003 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
GeneticVariation
|
disease |
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
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
|
17594401 |
2007 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
|
17594401 |
2007 |
|
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
|
16931511 |
2006 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We applied IntSplice to a naturally occurring and nine artificial intronic mutations in RAPSN causing congenital myasthenic syndrome.
|
27009626 |
2016 |
|
Myasthenic Syndromes, Congenital
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, mutations in RAPSN and COLQ are the most common causes of CMS in our cohort.
|
28024842 |
2017 |
|
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 |
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 |
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 |
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 |
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 |
A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
|
15482960 |
2004 |
|
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 |