|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.
|
27653901 |
2016 |
|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Thomsen disease with ptosis and abnormal MR findings.
|
27666773 |
2016 |
|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
|
26096614 |
2015 |
|
Myotonia Congenita
|
|
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 |
|
Generalized Myotonia of Thomsen
|
|
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 |
|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
|
12661046 |
2003 |
|
Generalized Myotonia of Thomsen
|
|
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 |
|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
|
9736777 |
1998 |
|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
|
9122265 |
1997 |
|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
|
8845168 |
1995 |
|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Myotonia levior is a chloride channel disorder.
|
7581380 |
1995 |
|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
|
8533761 |
1995 |
|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
|
8112288 |
1994 |
|
Generalized Myotonia of Thomsen
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
|
7981750 |
1993 |
|
Myotonia Congenita
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
|
26510092 |
2016 |
|
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
|
26096614 |
2015 |
|
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
|
26502825 |
2015 |
|
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
|
26007199 |
2015 |
|
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
|
22521272 |
2012 |
|
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.
|
22641783 |
2012 |
|
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.
|
19697366 |
2010 |
|
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
|
12661046 |
2003 |
|
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
"A ""dystrophic"" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene."
|
11113225 |
2000 |
|
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation.
|
10644771 |
2000 |