Property Summary

NCBI Gene PubMed Count 108
PubMed Score 244.45
PubTator Score 273.62

Knowledge Summary

Patent (3,752)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 2.100 1.2e-38

Gene RIF (80)

PMID Text
26510092 our study confirms the presence of the myotonia causing CLCN1 mutations p.F167L and p.R105C in the Costa Rican population.
26260254 Three novel mutations including 2 missense and one splicing were found in myotonia congenita patients.
26096614 we characterized three other myotonic ClC-1 mutations.
26021757 Our data are consistent with the idea that the CUL4A/B-DDB1-CRBN complex catalyses the polyubiquitination and thus controls the degradation of CLC-1 channels.
26007199 In 4 patients (3 families) with recessive MC, 4 CLCN1 variants were found, 3 of which are new. c.244A>G (p.T82A) and c.1357C>T (p.R453W) were compound heterozygotes with c.568GG>TC (p.G190S). The new c.809G>T (p.G270V) was homozygous.
25205014 investigated sequences of PRRT2 and CLCN1 in a proband diagnosed with paroxysmal kinesigenic dyskinesia and suspected myotonia congenita; the proband and his father harbored a PRRT2 c.649dupC mutation, and CLCN1 c.1723C>T and c.2492A>G mutations; first report showing the coexistence of PRRT2 and CLCN1 mutations
25088311 This electrophysiological and clinical observations suggest that heterozygous CLCN1 mutations can modify the clinical and electrophysiological expression of SCN4A mutation.
24625573 Six mutant forms of human CLC1 demonstrate modifications of channel gating behaviors and reduced chloride conductances that likely contribute to the physiologic changes of myotonia congenita.
24452722 splicing mutations accounted for 23 percent of all pathogenic variants in the cohort of myotonia congenita patients; 4 were heterozygous mutations in 4 unrelated individuals: c.563G>T in exon 5; c.1169-5T>G in intron 10; c.1251+1G>A in intron 11 and c.1931-2A>G in intron 16
24349310 in Czech patients with myotonia congenita(MC), 34 differentCLCN1 mutations were identified in 51 MC probands (14 new mutations); structural analysis of mutations in the homology model of the dimeric ClC-1 protein was performed; results demonstrate structure-function relationships in the ClC-1 protein which are relevant to understanding the molecular pathogenesis of MC
24064982 The common CIC-1 gate likely occludes the channel pore via interaction of E232 with a highly conserved tyrosine, Y578, at the central anion-binding site.
23933576 patients with myotonia congenita with very different phenotypes depending on mutation of ClC-1.
23893571 Early truncating mutations of CLCN1 precluding dimerization are expected to express an autosomal recessive phenotype in patients with myotonia congenita.
23771340 Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle CLCN1.
23739125 Two mutations in CN1 gene, inherited on the same allele as a heterozygous trait, abrogate disease expression, although when inherited singularly they were pathogenic.
23603549 family reveals that compound heterozygosity of two dominantly inheritable disease mutations exacerbates the myotonia, suggesting the dosage effect of CLCN1 mutation responsible for myotonia congenita of Thomsen type.
23483815 Genetic testing in both patients reveals previously unidentified mutations in the CLCN1 gene specific to Myotonia Congenita
23424641 functional and biochemical characterization of a myotonia mutation
23417379 Non-dystrophic myotonias are characterised by muscle stiffness during voluntary movement owing to delayed skeletal muscle relaxation caused by mutation in the CLCN1 skeletal muscle channel genes.
23408874 Molecular localization reveals the presence of CLCN1 mRNA transcripts in brain, previously believed absent in neurons.
23152584 Identification of new mutations leads to reclassification of Trp-118-Gly in CLCN1 as a moderately pathogenic mutation, and to confirmation of recessive (Becker) myotonia congenita.
23113340 The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias in Russia.
23097607 ClC1 mutations exert gene dose effects and enhance myotonia and pain in DM2 in Germany. Additionally, the ClC1(236X) splice variant may contribute to myotonia in DM2.
22790975 A single heterozygous missense CLCLN1 mutation, G233S, was associated with autosomal dominant myotonia congenita in a father & son.It affected the fast gate but not the common gate.
22689570 a new biological role for NAD suggests that the main physiological relevance may be the exquisite sensitivity to intracellular pH that NAD(+) inhibition imparts to ClC-1 gating.
22649220 copy number variation in CLCN1 may be an important cause of recessive myotonia congenita.
22641783 Our findings predict a dramatic reduction of the muscle fibre resting chloride conductance and thus fully explain the disease-causing effects of mutations C277R and C277Y of CLC1 in myotonia congenita
22521272 CLCN1 mutations may cause a decrease in macroscopic chloride currents, impairing membrane potential repolarization and causing hyperexcitability in muscle membranes.
22407275 The co-segregation of Myotonic dystrophy type 2 with a recessive CLCN1 mutation provided the explanation for the unusual clinical findings for juvenile onset of myotonia in a 14-year-old female with Myotonic dystrophy type 2 and her affected mother
22246887 study describes a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype; they carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X); none of the 6 heterozygote carriers show any sign of myotonia
22187529 Elucidating the pathophysiology of myotonia mutations will require the understanding of multiple molecular/cellular mechanisms of CLC-1 channels in skeletal muscles, including molecular operation, protein synthesis, and membrane trafficking mechanisms.
22106717 Identified a novel p.N440K sodium channel mutation that is located at the inner end of segment S6 of repeat I.
22094069 This study demonistrated that 26 different mutations in CLCN1 gene including 13 not reported previously. Among those 26 mutations, c.180+3A>T in intron 1 is present in nearly one half of the Spanish families in this series.
21413926 Closure of the common gate in ClC-1 channels is accompanied by a separation of the carboxyl-termini, whereas, with opening, the carboxyl-termini approach each other more closely.
21385601 Our data showed that slow activation gating of P480T ClC-1 mutation impaired the increment of chloride conductance during repetitive depolarization
21204798 Mutations in CLCN1 contributes to the pronounced variability in the myotonic phenotype.
21045501 sequencing of CLCN1 gene in 2 families with myotonia congenita revealed heterozygous mutation (892G>A, resulting in A298T) in 1 family and compound heterozygous mutations (782A>G, resulting in Y261C;1679T>C, resulting in M560T)in the other family
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20399394 A novel p.L2871 mutation in the CLCN1 gene is described in a Honduran boy with myotonia congenita; his unaffected father carries the same mutation, most likely reflecting autosomal-recessive myotonia congenita.
20398785 hClC-1 mutants expressed in whole-cell patch-clamped HEK293 cells showed that elimination of the carboxyl side chain in the E232Q mutation prevents fast gate closure at all voltages but common gating is also eliminated.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20120005 We investigated a 62-year-old man who had mild clinical features of myotonia congenita. He was found to have a novel heterozygous G-to-A nucleotide substitution at position 1652 in exon 15 of the CLCN1 gene.
20047568 CLCN1 dysfunction alone does not result in skeletal muscle morphologic changes even in advanced stages of myotonia congenita, and MRI skeletal muscle alterations in myotonic dystrophy must be clear consequences of the dystrophic disease process
19949657 A CLCN1 mutational analyses revealed nine different novel point mutations in Korean patients with myotonia congenita.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19773279 Observational study of gene-disease association. (HuGE Navigator)
19697366 A novel mutation, 568GG>TC(G190S) in the CLCN1 gene, is responsible for autosomal dominant myotonia congenita with a variable phenotypic spectrum.
19220292 Statins and fenofibrate affect skeletal muscle chloride conductance in rats by differently impairing ClC-1 channel regulation and expression.
19211598 The clinical guidelines proposed may help clinicians working in outpatient clinics to perform a focused genetic analysis of either CLCN1 or SCN4A.
18816629 Recessive CLCN1 mutation presenting in a Thomsen disease.
18807109 frequency of heterozygous recessive CLCN1 mutations is disproportionally higher in currently diagnosed myotonic dystrophy type 2(DM2) patients from Finland & Germany compared to control population; frequency in DM1 patients was the same as in controls
18807109 Observational study of gene-disease association. (HuGE Navigator)
18624224 The clinical spectrum for this family is in agreement with a clinical diagnosis of Becker myotonia. This was confirmed by molecular diagnosis where a new disease-causing mutation (Q412P) was found in the family and absent in 200 unaffected chromosomes.
18337730 CLCN1 and SCN4A mutation occurrence is associated with non-dystrophic myotonia.
18337730 Observational study of genetic testing. (HuGE Navigator)
18337100 Thirty-three French-Canadian families with non-dystrophic myotonia were identified.Thirteen mutations were identified in CLCN1 and five mutations were identified in SCN4A
18321245 The significance of the 2 cystathionine beta-synthase domains in the carboxyl tail of CLCN1 in channel function in an effort to explain conflicting and anomalous results from other studies is reported.
18263754 study reports kindred featuring index patient posessing 2 copies of a dominantly inherited mutated CLCN1 allele with a novel phenotypic presentation; kindred is the initial demonstration of dosage effect of a dominant mutated allele in the CLCN1 gene
18227271 Human ClC-1, expressed in Xenopus oocytes is insensitive to intracellular ATP up to 10 mM, at both pH 7.3 and 6.2, and results have implications for the understanding of nucleotide regulation of CLC proteins and for the role of ClC-1 in muscle excitation.
18220014 Phenotypic variability of autosomal dominant myotonia congenita in a family with muscle chloride channel (CLCN1) mutation.
18035046 The data suggest that the polymorphic changes may affect the function of CLCN1 in response to the treatment of chemical compounds.
17998485 CLCN1 variants are likely to modulate clinical expression of cold-induced myotonia caused by a single SCN4A mutation in a large cohort of French Canadians.
17990293 F413C and A531V but not R894X mutation of CLC-1 cause defective endoplasmic reticulum export of CLC-1 proetein.
17826470 asymptomatic patients with CLCN1 mutations may at least partially account for the EMG disease phenotype.
17693413 modulation of ClC-1 by ATP is a key component of this molecular mechanism
17664348 in the presence of physiological concentrations of ATP, reduction of the intracellular pH inhibits the expressed CLC-1, mostly by decreasing the open probability of the common gate of the channel.
17107341 first experimental investigation of structural changes resulting from myotonia-causing mutations.
17097617 These results further clarify the correlation between the mutations and their functional implications of CLCN1 channels.
16854622 Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>A) mutation
16567465 The experimental results revealed that among the three residues tested, K149 plays the most important role in controlling both the gating and the permeation functions of ClC-0.
16321142 Deletion of the terminal 100 amino acids (N889X) in human ClC-1 (skeletal-muscle chloride channel) has minor consequences, whereas truncation by 110 or more amino acids (from Q879X) destroys channel function.
16027167 gating of skeletal muscle ClC-1 chloride channels is regulated by cytoplasmic ATP-sensing domains
15786415 the phenotype depends on the mutation type to some extent, but this does not explain the fact that severity varies greatly between heterozygous family members and may even vary with time in the individual patient
15623702 Co-injection of wild-type cRNA with alternative splice variants causing premature truncation at codon 283 or codon 257 reduced the current density & accelerated channel closure on repolarization of the membrane.
15311340 Five mutations and three polymorphisms of skeletal muscle chloride channel gene (CLCN1) were identified in this study. Among these, three missense mutations (S471F, P575S, D644G) and one polymorphism (T736I) are novel and could be unique to the Taiwanese.
15241802 Two novel missense mutations were found in CLCN1 in a Myotonia Congenita patient, one of which has its major effects on the common gate of the chloride channel.
14718533 the carboxyl terminus of ClC-1 is not necessary for intracellular trafficking but is critical for channel function
12691663 partially hydrophobic pocket close to the chloride binding site is accessible from the cytoplasm, consistent with the observed intracellular block by 9-AC.
11933197 Review: Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
11840191 Mutations, unusually common in Scandinavia, show genetic heterogeneity in myotonia congenita.

AA Sequence

MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQIYGHHKEQFS      1 - 70
DREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIFLVLLGLLMALVSWSMDYVSA     71 - 140
KSLQAYKWSYAQMQPSLPLQFLVWVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMK    141 - 210
AFVAKVVALTAGLGSGIPVGKEGPFVHIASICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFG    211 - 280
TPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPA    281 - 350
FAAIGICCGLLGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMP    351 - 420
REAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIPCGGFMPVFVL    421 - 490
GAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTVSTAVICFELTGQIAHILPMM    491 - 560
VAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSKYTIFVEDIMVRDVKFVSASYTYGELRTLLQ    561 - 630
TTTVKTLPLVDSKDSMILLGSVERSELQALLQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGA    631 - 700
PPGRPESFAFVDEDEDEDLSGKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQS    701 - 770
LLHCLLGRARPTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTL    771 - 840
FSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAPPSSAENWNLP    841 - 910
EDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESPGLEEELADILQGPSLRSTDE    911 - 980
EDEDELIL                                                                  981 - 988
//

Text Mined References (112)

PMID Year Title
26510092 2016 Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
26502825 2015 Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
26260254 2015 Myotonia congenita: novel mutations in CLCN1 gene.
26096614 2015 ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
26021757 2015 The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels.
26007199 2015 Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
25416956 2014 A proteome-scale map of the human interactome network.
25205014 2014 Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.
25088311 2014 Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
24625573 2014 Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita.
24452722 2014 In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.
24349310 2013 CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
24064982 2013 Molecular determinants of common gating of a ClC chloride channel.
23933576 2013 Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes.
23893571 2014 Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
23771340 2013 Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
23739125 2013 A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.
23603549 2013 [Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease].
23483815 2013 Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
23424641 2013 Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels.
23417379 2013 Double trouble in a patient with myotonia.
23408874 2013 Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy.
23152584 2012 New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.
23113340 2012 [The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
23097607 2012 ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.
22790975 2012 Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1.
22689570 2012 Intracellular ?-nicotinamide adenine dinucleotide inhibits the skeletal muscle ClC-1 chloride channel.
22649220 2012 A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.
22641783 2012 Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.
22521272 2012 Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients.
22407275 2012 Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.
22246887 2012 Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
22187529 2011 Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.
22106717 2011 A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
22094069 2012 Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
21413926 2011 Movement of hClC-1 C-termini during common gating and limits on their cytoplasmic location.
21385601 2011 A CLCN1 mutation in dominant myotonia congenita impairs the increment of chloride conductance during repetitive depolarization.
21204798 2011 Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.
21045501 Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20399394 2010 Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.
20398785 2010 Inter-subunit communication and fast gate integrity are important for common gating in hClC-1.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20120005 2010 A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.
20047568 2010 Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita.
19949657 2009 Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
19697366 2010 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.
19220292 2009 Statins and fenofibrate affect skeletal muscle chloride conductance in rats by differently impairing ClC-1 channel regulation and expression.
19211598 2009 Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.
18816629 2008 Recessive CLCN1 mutation presenting as Thomsen disease.
18807109 2008 High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.
18624224 2008 Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.
18337730 2008 In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
18337100 2009 Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
18321245 2008 Analysis of carboxyl tail function in the skeletal muscle Cl- channel hClC-1.
18263754 2008 Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
18227271 2008 The muscle chloride channel ClC-1 is not directly regulated by intracellular ATP.
18220014 2007 Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.
18035046 2008 Functional studies of the effect of NO donor on human CLCN1 polymorphism/mutants expressed in Xenopus laevis oocytes.
17998485 2007 A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
17990293 2008 F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.
17826470 2007 Diffusely increased insertional activity: "EMG disease" or asymptomatic myotonia congenita? A report of 2 cases.
17693413 2007 Inhibition of skeletal muscle ClC-1 chloride channels by low intracellular pH and ATP.
17664348 2007 Cytoplasmic ATP inhibition of CLC-1 is enhanced by low pH.
17107341 2007 Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix.
17097617 2006 Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16854622 2006 Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>A) mutation.
16567465 2006 Roles of K149, G352, and H401 in the channel functions of ClC-0: testing the predictions from theoretical calculations.
16321142 2006 Functional complementation of truncated human skeletal-muscle chloride channel (hClC-1) using carboxyl tail fragments.
16027167 2005 Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels.
15786415 2005 Phenotypic variability in myotonia congenita.
15623702 2004 Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15311340 2004 Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.
15241802 2004 Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression.
14718533 2004 The role of the carboxyl terminus in ClC chloride channel function.
12853948 2003 The DNA sequence of human chromosome 7.
12691663 2003 Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12661046 2003 Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12456816 2002 A novel alteration of muscle chloride channel gating in myotonia levior.
12150906 2002 Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.
12150905 2002 Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.
11933197 2002 Myotonia caused by mutations in the muscle chloride channel gene CLCN1.
11113225 2000 A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10720929 2000 Molecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations.
10690989 2000 Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.
10644771 2000 Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation.
10215406 1998 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.
10198195 1999 Expression of CLCN voltage-gated chloride channel genes in human blood vessels.
9736777 1998 ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
9566422 1998 Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.
9122265 1997 A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
8845168 1995 Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
8741388 1996 Chloride transport across kidney epithelia through CLC chloride channels.
8571958 1996 Novel muscle chloride channel mutations and their effects on heterozygous carriers.
8533761 1995 Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
8301644 1993 Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).
8112288 1994 Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).
7981750 1993 Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
7981681 1994 Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion.
7951242 1994 Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.
7874130 1994 Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
7735894 1995 The skeletal muscle sodium and chloride channel diseases.
7581380 1995 Myotonia levior is a chloride channel disorder.
3983641 1985 Location of gene for beta subunit of human T-cell receptor at band 7q35, a region prone to rearrangements in T cells.
1379744 1992 The skeletal muscle chloride channel in dominant and recessive human myotonia.