Channelpedia

ClvC1 Channel

321 automatically matched literature references

6

7

Yoshinaga H et al. Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
Pediatr. Neurol., 2015 May , 52 (504-8).

9

Cannon SC Channelopathies of skeletal muscle excitability.
Compr Physiol, 2015 Apr , 5 (761-90).

10

Bugiardini E et al. SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
Neuromuscul. Disord., 2015 Apr , 25 (301-7).

11

Imbrici P et al. ClC-1 chloride channels: state-of-the-art research and future challenges.
Front Cell Neurosci, 2015 , 9 (156).

15

17

Hoche F et al. Novel N-terminal truncating CLCN1 mutation in severe Becker disease.
Muscle Nerve, 2014 Nov , 50 (866-7).

18

Furby A et al. Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
Neuromuscul. Disord., 2014 Nov , 24 (953-9).

19

Ulzi G et al. In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay.
Mol. Biol. Rep., 2014 May , 41 (2865-74).

20

Dabby R et al. Myotonia in DNM2-related centronuclear myopathy.
J Neural Transm, 2014 May , 121 (549-53).

21

Stölting G et al. ClC-1 and ClC-2 form hetero-dimeric channels with novel protopore functions.
Pflugers Arch., 2014 Mar 19 , ().

24

Tan SV et al. Chloride channels in myotonia congenita assessed by velocity recovery cycles.
Muscle Nerve, 2014 Jun , 49 (845-57).

27

Cardani R et al. Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2.
Neuromuscul. Disord., 2014 Dec , 24 (1042-53).

29

Kassardjian CD et al. Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient.
Neurogenetics, 2014 Aug , 15 (213-4).

30

Richardson RC et al. Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
Muscle Nerve, 2014 Apr , 49 (593-600).

31

Passeri E et al. Asymptomatic myotonia congenita unmasked by severe hypothyroidism.
Neuromuscul. Disord., 2014 Apr , 24 (365-7).

33

Gandolfi B et al. A novel mutation in CLCN1 associated with feline myotonia congenita.
PLoS ONE, 2014 , 9 (e109926).

34

Stölting G et al. CLC channel function and dysfunction in health and disease.
Front Physiol, 2014 , 5 (378).

41

Lucchiari S et al. Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient.
J. Physiol. Pharmacol., 2013 Oct , 64 (669-78).

44

Waters CW et al. Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.
Proc. Natl. Acad. Sci. U.S.A., 2013 May 28 , 110 (9160-5).

46

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Lakraj AA et al. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
Yale J Biol Med, 2013 Mar , 86 (101-6).

48

Borges AS et al. Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo.
Neuromuscul. Disord., 2013 Mar , 23 (206-13).

50

Skov M et al. Extracellular magnesium and calcium reduce myotonia in ClC-1 inhibited rat muscle.
Neuromuscul. Disord., 2013 Jun , 23 (489-502).

52

de Paoli FV et al. Relationship between membrane Cl- conductance and contractile endurance in isolated rat muscles.
J. Physiol. (Lond.), 2013 Jan 15 , 591 (531-45).

53

Arnaiz I et al. Changing expression of chloride channels during preimplantation mouse development.
Reproduction, 2013 Jan , 145 (73-84).

56

Morrow JM et al. Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Neuromuscul. Disord., 2013 Aug , 23 (637-46).

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60

Hehir MK et al. Double trouble in a patient with myotonia.
BMJ Case Rep, 2013 , 2013 ().

62

Bennetts B et al. Molecular determinants of common gating of a ClC chloride channel.
Nat Commun, 2013 , 4 (2507).

65

Ishiura S et al. [Myotonic dystrophy].
Rinsho Shinkeigaku, 2013 , 53 (1109-11).

67

Miyazaki H et al. CLC anion channel regulatory phosphorylation and conserved signal transduction domains.
Biophys. J., 2012 Oct 17 , 103 (1706-18).

68

Ursu SF et al. ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.
Acta Myol, 2012 Oct , 31 (144-53).

71

Howery AE et al. A designed inhibitor of a CLC antiporter blocks function through a unique binding mode.
Chem. Biol., 2012 Nov 21 , 19 (1460-70).

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Stauber T et al. Cell biology and physiology of CLC chloride channels and transporters.
Compr Physiol, 2012 Jul , 2 (1701-44).

78

Chen ZT et al. [Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2012 Dec , 29 (690-2).

81

89

Lamb GD et al. On the localization of ClC-1 in skeletal muscle fibers.
J. Gen. Physiol., 2011 Mar , 137 (327-9; author reply 331-3).

92

93

Fallah G et al. TMEM16A(a)/anoctamin-1 shares a homodimeric architecture with CLC chloride channels.
Mol. Cell Proteomics, 2011 Feb , 10 (M110.004697).

97

Tseng PY et al. Binding of ATP to the CBS domains in the C-terminal region of CLC-1.
J. Gen. Physiol., 2011 Apr , 137 (357-68).

98

van Lunteren E et al. Fatigue-inducing stimulation resolves myotonia in a drug-induced model.
BMC Physiol., 2011 , 11 (5).

99

Simske JS et al. Claudin family proteins in Caenorhabditis elegans.
Methods Mol. Biol., 2011 , 762 (147-69).

100

Tang CY et al. Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia.
J. Biomed. Biotechnol., 2011 , 2011 (685328).

102

Lyons MJ et al. Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.
Pediatr. Neurol., 2010 May , 42 (365-8).

104

Kumar KR et al. A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.
Muscle Nerve, 2010 Mar , 41 (412-5).

105

Cao L et al. Chloride channels and transporters in human corneal epithelium.
Exp. Eye Res., 2010 Jun , 90 (771-9).

107

Cederholm JM et al. Inter-subunit communication and fast gate integrity are important for common gating in hClC-1.
Int. J. Biochem. Cell Biol., 2010 Jul , 42 (1182-8).

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110

Lueck JD et al. Sarcolemmal-restricted localization of functional ClC-1 channels in mouse skeletal muscle.
J. Gen. Physiol., 2010 Dec , 136 (597-613).

111

Tian M et al. Chloride channels regulate chondrogenesis in chicken mandibular mesenchymal cells.
Arch. Oral Biol., 2010 Dec , 55 (938-45).

115

Arzel-Hézode M et al. Homozygosity for dominant mutations increases severity of muscle channelopathies.
Muscle Nerve, 2009 Oct 30 , ().

117

Pedersen TH et al. Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers.
J. Gen. Physiol., 2009 Oct , 134 (309-22).

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120

Jung J et al. Allelic-based gene-gene interaction associated with quantitative traits.
Genet. Epidemiol., 2009 May , 33 (332-43).

121

Ma L et al. Functional study of cytoplasmic loops of human skeletal muscle chloride channel, hClC-1.
Int. J. Biochem. Cell Biol., 2009 Jun , 41 (1402-9).

122

Trip J et al. Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.
J. Neurol. Neurosurg. Psychiatr., 2009 Jun , 80 (647-52).

123

Moon IS et al. Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
J. Korean Med. Sci., 2009 Dec , 24 (1038-44).

124

Osborne RJ et al. Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy.
Hum. Mol. Genet., 2009 Apr 15 , 18 (1471-81).

125

Zdebik AA Statins and fibrate target ClC-1 - from side effects to CLC pharmacology.
Br. J. Pharmacol., 2009 Apr , 156 (1204-5).

127

Mankodi A Myotonic disorders.
, 2008 Jul-Sep , 56 (298-304).

128

Hou J et al. ClC chloride channels in tooth germ and odontoblast-like MDPC-23 cells.
Arch. Oral Biol., 2008 Sep , 53 (874-8).

129

Zhang XD et al. ATP inhibition of CLC-1 is controlled by oxidation and reduction.
J. Gen. Physiol., 2008 Oct , 132 (421-8).

133

Thomas J et al. Recessive CLCN1 mutation presenting as Thomsen disease.
Muscle Nerve, 2008 Nov , 38 (1515-7).

134

137

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Wakeman B et al. Extraocular muscle hypertrophy in myotonia congenita.
, 2008 Jun , 12 (294-6).

139

Ma L et al. Analysis of carboxyl tail function in the skeletal muscle Cl- channel hClC-1.
Biochem. J., 2008 Jul 1 , 413 (61-9).

140

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Cherian A et al. Muscle channelopathies and electrophysiological approach.
Ann Indian Acad Neurol, 2008 Jan , 11 (20-7).

142

Zdebik AA et al. Determinants of anion-proton coupling in mammalian endosomal CLC proteins.
J. Biol. Chem., 2008 Feb 15 , 283 (4219-27).

143

144

Bernard G et al. Dosage effect of a dominant CLCN1 mutation: a novel syndrome.
J. Child Neurol., 2008 Feb , 23 (163-6).

145

Morales F et al. Gene symbol: CLCN1. Disease: Myotonia congenita.
Hum. Genet., 2008 Feb , 123 (104-5).

146

Zifarelli G et al. The muscle chloride channel ClC-1 is not directly regulated by intracellular ATP.
J. Gen. Physiol., 2008 Feb , 131 (109-16).

148

Burgunder JM et al. Novel chloride channel mutations leading to mild myotonia among Chinese.
Neuromuscul. Disord., 2008 Aug , 18 (633-40).

150

Lossin C et al. Myotonia congenita.
Adv. Genet., 2008 , 63 (25-55).

151

Finnigan DF et al. A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog.
J. Vet. Intern. Med., 2007 May-Jun , 21 (458-63).

154

Bennetts B et al. Inhibition of skeletal muscle ClC-1 chloride channels by low intracellular pH and ATP.
J. Biol. Chem., 2007 Nov 9 , 282 (32780-91).

155

Rossignol E et al. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
Neurology, 2007 Nov 13 , 69 (1937-41).

161

Lueck JD et al. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy.
J. Gen. Physiol., 2007 Jan , 129 (79-94).

162

165

Tseng PY et al. Cytoplasmic ATP inhibition of CLC-1 is enhanced by low pH.
J. Gen. Physiol., 2007 Aug , 130 (217-21).

169

Lueck JD et al. Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1.
Am. J. Physiol., Cell Physiol., 2007 Apr , 292 (C1291-7).

171

Zifarelli G et al. CLC chloride channels and transporters: a biophysical and physiological perspective.
Rev. Physiol. Biochem. Pharmacol., 2007 , 158 (23-76).

173

McKay OM et al. Activity-induced weakness in recessive myotonia congenita with a novel (696+1G>A) mutation.
Clin Neurophysiol, 2006 Sep , 117 (2064-8).

174

Eguchi H et al. Acetazolamide acts directly on the human skeletal muscle chloride channel.
Muscle Nerve, 2006 Sep , 34 (292-7).

176

Aromataris EC et al. ClC-1 chloride channel: Matching its properties to a role in skeletal muscle.
Clin. Exp. Pharmacol. Physiol., 2006 Nov , 33 (1118-23).

177

Kuo HC et al. Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.
Acta Neurol. Scand., 2006 May , 113 (342-6).

179

Lobet S et al. Ion-binding properties of the ClC chloride selectivity filter.
EMBO J., 2006 Jan 11 , 25 (24-33).

180

Pusch M et al. Channel or transporter? The CLC saga continues.
Exp. Physiol., 2006 Jan , 91 (149-52).

183

De Angeli A et al. The nitrate/proton antiporter AtCLCa mediates nitrate accumulation in plant vacuoles.
Nature, 2006 Aug 24 , 442 (939-42).

185

Becq F On the discovery and development of CFTR chloride channel activators.
Curr. Pharm. Des., 2006 , 12 (471-84).

186

Bennetts B et al. Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels.
J. Biol. Chem., 2005 Sep 16 , 280 (32452-8).

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Duffield MD et al. Zinc inhibits human ClC-1 muscle chloride channel by interacting with its common gating mechanism.
J. Physiol. (Lond.), 2005 Oct 1 , 568 (5-12).

190

Picollo A et al. Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.
Nature, 2005 Jul 21 , 436 (420-3).

191

Colding-Jørgensen E Phenotypic variability in myotonia congenita.
Muscle Nerve, 2005 Jul , 32 (19-34).

193

Papponen H et al. Regulated sarcolemmal localization of the muscle-specific ClC-1 chloride channel.
Exp. Neurol., 2005 Jan , 191 (163-73).

194

Pedersen TH et al. Increased excitability of acidified skeletal muscle: role of chloride conductance.
J. Gen. Physiol., 2005 Feb , 125 (237-46).

195

de Santiago JA et al. Quantitative analysis of the voltage-dependent gating of mouse parotid ClC-2 chloride channel.
J. Gen. Physiol., 2005 Dec , 126 (591-603).

197

Chen L et al. Exon 17 skipping in CLCN1 leads to recessive myotonia congenita.
Muscle Nerve, 2004 May , 29 (670-6).

198

Hebeisen S et al. The role of the carboxyl terminus in ClC chloride channel function.
J. Biol. Chem., 2004 Mar 26 , 279 (13140-7).

199

Estévez R et al. Functional and structural conservation of CBS domains from CLC chloride channels.
J. Physiol. (Lond.), 2004 Jun 1 , 557 (363-78).

201

Jou SB et al. Novel CLCN1 mutations in Taiwanese patients with myotonia congenita.
J. Neurol., 2004 Jun , 251 (666-70).

203

Corry B et al. Conduction mechanisms of chloride ions in ClC-type channels.
Biophys. J., 2004 Feb , 86 (846-60).

204

Lamont PJ et al. An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation.
J. Neurol. Neurosurg. Psychiatr., 2004 Feb , 75 (343).

205

Davies N et al. Chloride channel gene expression in the rabbit cornea.
Mol. Vis., 2004 Dec 30 , 10 (1028-37).

208

Idnurm A et al. Cryptococcus neoformans virulence gene discovery through insertional mutagenesis.
Eukaryotic Cell, 2004 Apr , 3 (420-9).

209

Duffield M et al. Involvement of helices at the dimer interface in ClC-1 common gating.
J. Gen. Physiol., 2003 Feb , 121 (149-61).

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213

Maduke M et al. The poststructural festivities begin.
Neuron, 2003 Apr 10 , 38 (1-3).

214

Colding-Jørgensen E et al. Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
Muscle Nerve, 2003 Apr , 27 (449-55).

215

Pusch M et al. Mechanisms of block of muscle type CLC chloride channels (Review).
Mol. Membr. Biol., 2002 Oct-Dec , 19 (285-92).

217

Kulka M et al. Mast cells express chloride channels of the ClC family.
Inflamm. Res., 2002 Sep , 51 (451-6).

218

Shirakawa T et al. A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A.
Neurology, 2002 Oct 8 , 59 (1091-4).

220

Wu H et al. Activation of the MEF2 transcription factor in skeletal muscles from myotonic mice.
J. Clin. Invest., 2002 May , 109 (1327-33).

225

Ryan A et al. A novel alteration of muscle chloride channel gating in myotonia levior.
J. Physiol. (Lond.), 2002 Dec 1 , 545 (345-54).

226

Rogers CS et al. Functional repair of a mutant chloride channel using a trans-splicing ribozyme.
J. Clin. Invest., 2002 Dec , 110 (1783-9).

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Weinreich F et al. Pores formed by single subunits in mixed dimers of different CLC chloride channels.
J. Biol. Chem., 2001 Jan 26 , 276 (2347-53).

238

Fahlke C et al. Residues lining the inner pore vestibule of human muscle chloride channels.
J. Biol. Chem., 2001 Jan 19 , 276 (1759-65).

240

241

Bennetts B et al. Temperature dependence of human muscle ClC-1 chloride channel.
J. Physiol. (Lond.), 2001 Aug 15 , 535 (83-93).

242

243

Accardi A et al. Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S.
J. Physiol. (Lond.), 2001 Aug 1 , 534 (745-52).

244

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Accardi A et al. Fast and slow gating relaxations in the muscle chloride channel CLC-1.
J. Gen. Physiol., 2000 Sep , 116 (433-44).

248

Pauli BU et al. Molecular characteristics and functional diversity of CLCA family members.
Clin. Exp. Pharmacol. Physiol., 2000 Nov , 27 (901-5).

250

254

Qu Z et al. Anion permeation in Ca(2+)-activated Cl(-) channels.
J. Gen. Physiol., 2000 Dec , 116 (825-44).

256

Schriever AM et al. CLC chloride channels in Caenorhabditis elegans.
J. Biol. Chem., 1999 Nov 26 , 274 (34238-44).

257

Petalcorin MI et al. Disruption of clh-1, a chloride channel gene, results in a wider body of Caenorhabditis elegans.
J. Mol. Biol., 1999 Nov 26 , 294 (347-55).

260

Pusch M et al. Chloride dependence of hyperpolarization-activated chloride channel gates.
J. Physiol. (Lond.), 1999 Mar 1 , 515 ( Pt 2) (341-53).

262

Lamb FS et al. Expression of CLCN voltage-gated chloride channel genes in human blood vessels.
J. Mol. Cell. Cardiol., 1999 Mar , 31 (657-66).

263

Papponen H et al. Founder mutations and the high prevalence of myotonia congenita in northern Finland.
Neurology, 1999 Jul 22 , 53 (297-302).

264

Rosenbohm A et al. Regulation of the human skeletal muscle chloride channel hClC-1 by protein kinase C.
J. Physiol. (Lond.), 1999 Feb 1 , 514 ( Pt 3) (677-85).

265

Rich MM et al. Altered gene expression in steroid-treated denervated muscle.
Neurobiol. Dis., 1999 Dec , 6 (515-22).

272

Rychkov GY et al. Permeation and block of the skeletal muscle chloride channel, ClC-1, by foreign anions.
J. Gen. Physiol., 1998 May , 111 (653-65).

273

Thakker RV The role of renal chloride channel mutations in kidney stone disease and nephrocalcinosis.
Curr. Opin. Nephrol. Hypertens., 1998 Jul , 7 (385-8).

274

Hryciw DH et al. Relevance of the D13 region to the function of the skeletal muscle chloride channel, ClC-1.
J. Biol. Chem., 1998 Feb 20 , 273 (4304-7).

275

Eggermont J The exon-intron architecture of human chloride channel genes is not conserved.
Biochim. Biophys. Acta, 1998 Apr 29 , 1397 (156-60).

277

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Mastaglia FL et al. Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation.
J. Neurol. Neurosurg. Psychiatr., 1998 Apr , 64 (543-7).

283

Fahlke C et al. Mechanism of ion permeation in skeletal muscle chloride channels.
J. Gen. Physiol., 1997 Nov , 110 (551-64).

284

Fahlke C et al. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
Proc. Natl. Acad. Sci. U.S.A., 1997 Mar 18 , 94 (2729-34).

286

Schmidt-Rose T et al. Transmembrane topology of a CLC chloride channel.
Proc. Natl. Acad. Sci. U.S.A., 1997 Jul 8 , 94 (7633-8).

287

Fahlke C et al. Subunit stoichiometry of human muscle chloride channels.
J. Gen. Physiol., 1997 Jan , 109 (93-104).

288

Oshima T et al. Expression of voltage-dependent chloride channels in the rat cochlea.
Hear. Res., 1997 Jan , 103 (63-8).

291

Schmidt-Rose T et al. Reconstitution of functional voltage-gated chloride channels from complementary fragments of CLC-1.
J. Biol. Chem., 1997 Aug 15 , 272 (20515-21).

292

293

Ryan AM et al. Chromosomal assignment of six muscle-specific genes in cattle.
Anim. Genet., 1997 Apr , 28 (84-7).

295

Lorenz C et al. Heteromultimeric CLC chloride channels with novel properties.
Proc. Natl. Acad. Sci. U.S.A., 1996 Nov 12 , 93 (13362-6).

296

Uchida S [Structure and function of ClC chloride channels]
Nippon Rinsho, 1996 Mar , 54 (667-71).

298

Mailänder V et al. Novel muscle chloride channel mutations and their effects on heterozygous carriers.
Am. J. Hum. Genet., 1996 Feb , 58 (317-24).

299

Rychkov GY et al. Concentration and pH dependence of skeletal muscle chloride channel ClC-1.
J. Physiol. (Lond.), 1996 Dec 1 , 497 ( Pt 2) (423-35).

300

Coca-Prados M et al. PKC-sensitive Cl- channels associated with ciliary epithelial homologue of pICln.
Am. J. Physiol., 1995 Mar , 268 (C572-9).

301

Jentsch TJ et al. Properties of voltage-gated chloride channels of the ClC gene family.
J. Physiol. (Lond.), 1995 Jan , 482 (19S-25S).

302

303

Lehmann-Horn F et al. Myotonia levior is a chloride channel disorder.
Hum. Mol. Genet., 1995 Aug , 4 (1397-402).

305

Gurnett CA et al. Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice.
J. Biol. Chem., 1995 Apr 21 , 270 (9035-8).

306

Hudson AJ et al. The skeletal muscle sodium and chloride channel diseases.
Brain, 1995 Apr , 118 ( Pt 2) (547-63).

307

Jentsch TJ et al. Myotonias due to CLC-1 chloride channel mutations.
Soc. Gen. Physiol. Ser., 1995 , 50 (149-59).

308

Huang ME et al. A voltage-gated chloride channel in the yeast Saccharomyces cerevisiae.
J. Mol. Biol., 1994 Sep 30 , 242 (595-8).

311

Meyer-Kleine C et al. A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker).
Hum. Mol. Genet., 1994 Jun , 3 (1015-6).

313

314

Gronemeier M et al. Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice.
J. Biol. Chem., 1994 Feb 25 , 269 (5963-7).

316

319

Thiemann A et al. A chloride channel widely expressed in epithelial and non-epithelial cells.
Nature, 1992 Mar 5 , 356 (57-60).

320

Koch MC et al. The skeletal muscle chloride channel in dominant and recessive human myotonia.
Science, 1992 Aug 7 , 257 (797-800).

321

Steinmeyer K et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice.
Nature, 1991 Nov 28 , 354 (304-8).