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 |
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
|
9736777 |
1998 |
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.
|
10215406 |
1998 |
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
|
9566422 |
1998 |
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel muscle chloride channel mutations and their effects on heterozygous carriers.
|
8571958 |
1996 |
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
|
8533761 |
1995 |
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
|
8845168 |
1995 |
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
|
7951242 |
1994 |
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
|
7874130 |
1994 |
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.
|
7981681 |
1994 |
Becker Generalized Myotonia
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The skeletal muscle chloride channel in dominant and recessive human myotonia.
|
1379744 |
1992 |