×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
27415035 2017
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features.
28706458 2017
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Targeted Next Generation Sequencing in patients with Myotonia Congenita.
28427807 2017
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions.
27614575 2016
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.
27118449 2016
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.
27296017 2016
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β.
27580824 2016
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
GeneticVariation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545 2016
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
27142102 2016
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545 2016
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
26096614 2015
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
The Overlap between Fibromyalgia Syndrome and Myotonia Congenita.
25749817 2015
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita.
25065301 2015
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Both recessive (Becker's disease ) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1 gene encoding the voltage-dependent chloride ClC-1 channel, which is quite exclusively expressed in skeletal muscle.
26007199 2015
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels.
26021757 2015
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
26502825 2015
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
GeneticVariation
CLINVAR
Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
26502825 2015
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
27199537 2015
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association?
25036107 2014
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
GeneticVariation
CLINVAR
Asymptomatic myotonia congenita unmasked by severe hypothyroidism.
24530047 2014
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.
24452722 2014
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Chloride channels in myotonia congenita assessed by velocity recovery cycles.
24037712 2014
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
23893571 2014
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
Double-trouble in pediatric neurology: myotonia congenita combined with charcot-marie-tooth disease type 1a.
24515601 2014
×
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
Becker Generalized Myotonia
0.800
CausalMutation
CLINVAR
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.
23739125 2013