rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
|
7981750 |
1993 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
|
8112288 |
1994 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
|
8845168 |
1995 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Myotonia levior is a chloride channel disorder.
|
7581380 |
1995 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
|
8533761 |
1995 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
|
9122265 |
1997 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
|
9566422 |
1998 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
|
9736777 |
1998 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
|
12661046 |
2003 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A parallel was drawn between this unprecedented situation and that of myotonia congenita by including patients homozygous or heterozygous for the CLCN1 I556N channel mutation, which is known for incomplete dominance and penetrance.
|
19882638 |
2010 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
|
26096614 |
2015 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.
|
27653901 |
2016 |
rs80356697
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Thomsen disease with ptosis and abnormal MR findings.
|
27666773 |
2016 |