Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Science 7 August 1992:
Vol. 257. no. 5071, pp. 797 - 800
DOI: 10.1126/science.1379744
Prev | Table of Contents | Next

Articles

Science, Vol 257, Issue 5071, 797-800
Copyright © 1992 by American Association for the Advancement of Science

articles

The skeletal muscle chloride channel in dominant and recessive human myotonia

MC Koch, K Steinmeyer, C Lorenz, K Ricker, F Wolf, M Otto, B Zoll, F Lehmann-Horn, KH Grzeschik, and TJ Jentsch

Medical Center for Human Genetics, Marburg University, Germany.

Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease) (MC) are characterized by skeletal muscle stiffness that is a result of muscle membrane hyperexcitability. For both diseases, alterations in muscle chloride or sodium currents or both have been observed. A complementary DNA for a human skeletal muscle chloride channel (CLC-1) was cloned, physically localized on chromosome 7, and linked to the T cell receptor beta (TCRB) locus. Tight linkage of these two loci to GM and MC was found in German families. An unusual restriction site in the CLC-1 locus in two GM families identified a mutation associated with that disease, a phenylalanine-to-cysteine substitution in putative transmembrane domain D8. This suggests that different mutations in CLC-1 may cause dominant or recessive myotonia.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Regulation of ClC-1 and KATP channels in action potential-firing fast-twitch muscle fibers.
T. H. Pedersen, F. V. de Paoli, J. A. Flatman, and O. B. Nielsen (2009)
J. Gen. Physiol. 134, 309-322
   Abstract »    Full Text »    PDF »
Comparison of regulated passive membrane conductance in action potential-firing fast- and slow-twitch muscle.
T. H. Pedersen, W. A. Macdonald, F. V. de Paoli, I. S. Gurung, and O. B. Nielsen (2009)
J. Gen. Physiol. 134, 323-337
   Abstract »    Full Text »    PDF »
Mechanisms underlying Andersen's syndrome pathology in skeletal muscle are revealed in human myotubes.
S. Sacconi, D. Simkin, N. Arrighi, F. Chapon, M. M. Larroque, S. Vicart, D. Sternberg, B. Fontaine, J. Barhanin, C. Desnuelle, et al. (2009)
Am J Physiol Cell Physiol 297, C876-C885
   Abstract »    Full Text »    PDF »
Genetic perturbation of postsynaptic activity regulates synapse elimination in developing cerebellum.
E. Lorenzetto, L. Caselli, G. Feng, W. Yuan, J. M. Nerbonne, J. R. Sanes, and M. Buffelli (2009)
PNAS 106, 16475-16480
   Abstract »    Full Text »    PDF »
Diagnosis and new treatment in muscle channelopathies.
G Meola, M G Hanna, and B Fontaine (2009)
J. Neurol. Neurosurg. Psychiatry 80, 360-365
   Abstract »    Full Text »    PDF »
Monitoring of chloride and activity of glycine receptor channels using genetically encoded fluorescent sensors.
M. Mukhtarov, O. Markova, E. Real, Y. Jacob, S. Buldakova, and P. Bregestovski (2008)
Phil Trans R Soc A 366, 3445-3462
   Abstract »    Full Text »    PDF »
CLC-0 and CFTR: Chloride Channels Evolved From Transporters.
T.-Y. Chen and T.-C. Hwang (2008)
Physiol Rev 88, 351-387
   Abstract »    Full Text »    PDF »
Determinants of Anion-Proton Coupling in Mammalian Endosomal CLC Proteins.
A. A. Zdebik, G. Zifarelli, E.-Y. Bergsdorf, P. Soliani, O. Scheel, T. J. Jentsch, and M. Pusch (2008)
J. Biol. Chem. 283, 4219-4227
   Abstract »    Full Text »    PDF »
The Muscle Chloride Channel ClC-1 Is Not Directly Regulated by Intracellular ATP.
G. Zifarelli and M. Pusch (2008)
J. Gen. Physiol. 131, 109-116
   Abstract »    Full Text »    PDF »
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
D. Fialho, S. Schorge, U. Pucovska, N. P. Davies, R. Labrum, A. Haworth, E. Stanley, R. Sud, W. Wakeling, M. B. Davis, et al. (2007)
Brain 130, 3265-3274
   Abstract »    Full Text »    PDF »
Inhibition of Skeletal Muscle ClC-1 Chloride Channels by Low Intracellular pH and ATP.
B. Bennetts, M. W. Parker, and B. A. Cromer (2007)
J. Biol. Chem. 282, 32780-32791
   Abstract »    Full Text »    PDF »
Cytoplasmic ATP Inhibition of CLC-1 Is Enhanced by Low pH.
P.-Y. Tseng, B. Bennetts, and T.-Y. Chen (2007)
J. Gen. Physiol. 130, 217-221
   Abstract »    Full Text »    PDF »
Properties and possible function of a hyperpolarisation-activated chloride current in Drosophila.
U. Rose, C. Derst, M. Wanischeck, C. Marinc, and C. Walther (2007)
J. Exp. Biol. 210, 2489-2500
   Abstract »    Full Text »    PDF »
Isotonic contractile impairment due to genetic CLC-1 chloride channel deficiency in myotonic mouse diaphragm muscle.
E. van Lunteren, J. Pollarine, and M. Moyer (2007)
Exp Physiol 92, 717-729
   Abstract »    Full Text »    PDF »
Hypotonic Activation of Short ClC3 Isoform Is Modulated by Direct Interaction between Its Cytosolic C-terminal Tail and Subcortical Actin Filaments.
D. T. McCloskey, L. Doherty, Y.-P. Dai, L. Miller, J. R. Hume, and I. A. Yamboliev (2007)
J. Biol. Chem. 282, 16871-16877
   Abstract »    Full Text »    PDF »
Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1.
J. D. Lueck, C. Lungu, A. Mankodi, R. J. Osborne, S. L. Welle, R. T. Dirksen, and C. A. Thornton (2007)
Am J Physiol Cell Physiol 292, C1291-C1297
   Abstract »    Full Text »    PDF »
The human ClC-4 protein, a member of the CLC chloride channel/transporter family, is localized to the endoplasmic reticulum by its N-terminus.
H. Okkenhaug, K.-H. Weylandt, D. Carmena, D. J. Wells, C. F. Higgins, and A. Sardini (2006)
FASEB J 20, 2390-2392
   Abstract »    Full Text »    PDF »
RNA-dominant diseases.
R. J. Osborne and C. A. Thornton (2006)
Hum. Mol. Genet. 15, R162-R169
   Abstract »    Full Text »    PDF »
Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis.
G. W. Abbott, M. H. Butler, and S. A. N. Goldstein (2006)
FASEB J 20, 293-301
   Abstract »    Full Text »    PDF »
Chloride Transport in the Kidney: Lessons from Human Disease and Knockout Mice.
T. J. Jentsch (2005)
J. Am. Soc. Nephrol. 16, 1549-1561
   Abstract »    Full Text »    PDF »
Genetic determinants of weight of fast- and slow-twitch skeletal muscle in 500-day-old mice of the C57BL/6J and DBA/2J lineage.
A. Lionikas, D. A. Blizard, G. S. Gerhard, D. J. Vandenbergh, J. T. Stout, G. P. Vogler, G. E. McClearn, and L. Larsson (2005)
Physiol Genomics 21, 184-192
   Abstract »    Full Text »    PDF »
Increased Excitability of Acidified Skeletal Muscle: Role of Chloride Conductance.
T. H. Pedersen, F. de Paoli, and O. B. Nielsen (2005)
J. Gen. Physiol. 125, 237-246
   Abstract »    Full Text »    PDF »
Neurological channelopathies.
T D Graves and M G Hanna (2005)
Postgrad. Med. J. 81, 20-32
   Abstract »    Full Text »    PDF »
Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies.
M. I. Niemeyer, Y. R. Yusef, I. Cornejo, C. A. Flores, F. V. Sepulveda, and L. P. Cid (2004)
Physiol Genomics 19, 74-83
   Abstract »    Full Text »    PDF »
Functional and structural conservation of CBS domains from CLC chloride channels.
R. Estevez, M. Pusch, C. Ferrer-Costa, M. Orozco, and T. J. Jentsch (2004)
J. Physiol. 557, 363-378
   Abstract »    Full Text »    PDF »
Additional Disruption of the ClC-2 Cl- Channel Does Not Exacerbate the Cystic Fibrosis Phenotype of Cystic Fibrosis Transmembrane Conductance Regulator Mouse Models.
A. A. Zdebik, J. E. Cuffe, M. Bertog, C. Korbmacher, and T. J. Jentsch (2004)
J. Biol. Chem. 279, 22276-22283
   Abstract »    Full Text »    PDF »
The Role of the Carboxyl Terminus in ClC Chloride Channel Function.
S. Hebeisen, A. Biela, B. Giese, G. Muller-Newen, P. Hidalgo, and C. Fahlke (2004)
J. Biol. Chem. 279, 13140-13147
   Abstract »    Full Text »    PDF »
Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.
S. Saiki, K. Sakai, Y. Kitagawa, M. Saiki, S. Kataoka, and G. Hirose (2003)
Neurology 61, 1614-1616
   Abstract »    Full Text »    PDF »
Conformational Changes in the Pore of CLC-0.
A. Accardi and M. Pusch (2003)
J. Gen. Physiol. 122, 277-294
   Abstract »    Full Text »    PDF »
The Chloride Channel ClC-4 Contributes to Endosomal Acidification and Trafficking.
R. Mohammad-Panah, R. Harrison, S. Dhani, C. Ackerley, L.-J. Huan, Y. Wang, and C. E. Bear (2003)
J. Biol. Chem. 278, 29267-29277
   Abstract »    Full Text »    PDF »
A novel alteration of muscle chloride channel gating in myotonia levior.
A. Ryan, R. Rudel, M. Kuchenbecker, and C. Fahlke (2002)
J. Physiol. 545, 345-354
   Abstract »    Full Text »    PDF »
Channel Surfing.
L. J. Ptacek (2002)
J. Clin. Endocrinol. Metab. 87, 4879-4880
   Full Text »    PDF »
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
F.-F. Wu, A. Ryan, J. Devaney, M. Warnstedt, Z. Korade-Mirnics, B. Poser, M. J. Escriva, E. Pegoraro, A. S. Yee, K. J. Felice, et al. (2002)
Brain 125, 2392-2407
   Abstract »    Full Text »    PDF »
A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A.
T. Shirakawa, K. Sakai, Y. Kitagawa, A. Hori, and G. Hirose (2002)
Neurology 59, 1091-1094
   Abstract »    Full Text »    PDF »
Ion channel diseases.
C. A. Hubner and T. J. Jentsch (2002)
Hum. Mol. Genet. 11, 2435-2445
   Abstract »    Full Text »    PDF »
The Myotonia Congenita Mutation A331T Confers a Novel Hyperpolarization-Activated Gate to the Muscle Chloride Channel ClC-1.
M. Warnstedt, C. Sun, B. Poser, M. J. Escriva, L. Tranebjarg, T. Torbergsen, M. van Ghelue, and C. Fahlke (2002)
J. Neurosci. 22, 7462-7470
   Abstract »    Full Text »    PDF »
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy.
B. A. Minassian, R. Aiyar, S. Alic, B. Banwell, M. Villanova, M. Fardeau, J. W. Mandell, V. C. Juel, M. Rafii, M. Auranen, et al. (2002)
Neurology 59, 596-601
   Abstract »    Full Text »    PDF »
Molecular Requisites for Drug Binding to Muscle CLC-1 and Renal CLC-K Channel Revealed by the Use of Phenoxy-Alkyl Derivatives of 2-(p-Chlorophenoxy)Propionic Acid.
A. Liantonio, A. Accardi, G. Carbonara, G. Fracchiolla, F. Loiodice, P. Tortorella, S. Traverso, P. Guida, S. Pierno, A. De Luca, et al. (2002)
Mol. Pharmacol. 62, 265-271
   Abstract »    Full Text »    PDF »
Molecular Structure and Physiological Function of Chloride Channels.
T. J. Jentsch, V. Stein, F. Weinreich, and A. A. Zdebik (2002)
Physiol Rev 82, 503-568
   Abstract »    Full Text »    PDF »
Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
E. Cleiren, O. Benichou, E. Van Hul, J. Gram, J. Bollerslev, F. R. Singer, K. Beaverson, A. Aledo, M. P. Whyte, T. Yoneyama, et al. (2001)
Hum. Mol. Genet. 10, 2861-2867
   Abstract »    Full Text »    PDF »
Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S.
A. Accardi, L. Ferrera, and M. Pusch (2001)
J. Physiol. 534, 745-752
   Abstract »    Full Text »    PDF »
KGF alters gene expression in human airway epithelia: potential regulation of the inflammatory response.
L. S. PRINCE, P. H. KARP, T. O. MONINGER, and M. J. WELSH (2001)
Physiol Genomics 6, 81-89
   Abstract »    Full Text »    PDF »
Fast and Slow Gating of CLC-1: Differential Effects of 2-(4-Chlorophenoxy) Propionic Acid and Dominant Negative Mutations.
E. C. Aromataris, G. Y. Rychkov, B. Bennetts, B. P. Hughes, A. H. Bretag, and M. L. Roberts (2001)
Mol. Pharmacol. 60, 200-208
   Abstract »    Full Text »
Ion permeation and selectivity in ClC-type chloride channels.
C. Fahlke (2001)
Am J Physiol Renal Physiol 280, F748-F757
   Abstract »    Full Text »    PDF »
Proximal Myotonic Myopathy: Clinical, Neuropathologic, and Molecular Genetic Features.
S. Eisenschenk, W. J. Triggs, G. S. Pearl, and A. M. Rojiani (2001)
Ann. Clin. Lab. Sci. 31, 140-146
   Abstract »    Full Text »    PDF »
Ontogeny of CLCN3 Chloride Channel Gene Expression in Human Pulmonary Epithelium.
F. S. Lamb, R. W. Graeff, G. H. Clayton, R. L. Smith, B. C. Schutte, and P. B. McCray Jr. (2001)
Am. J. Respir. Cell Mol. Biol. 24, 376-381
   Abstract »    Full Text »
Propagation disturbance of motor unit action potentials during transient paresis in generalized myotonia: A high-density surface EMG study.
G. Drost, J. H. Blok, D. F. Stegeman, J. P. van Dijk, B. G. M. van Engelen, and M. J. Zwarts (2001)
Brain 124, 352-360
   Abstract »    Full Text »    PDF »
A ""dystrophic"" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.
S. Nagamitsu, T. Matsuura, M. Khajavi, R. Armstrong, C. Gooch, Y. Harati, and T. Ashizawa (2000)
Neurology 55, 1697-1703
   Abstract »    Full Text »    PDF »
Model Organisms: New Insights: Into Ion Channel and Transporter Function. Caenorhabditis elegans ClC-type chloride channels: novel variants and functional expression.
K. Nehrke, T. Begenisich, J. Pilato, and J. E. Melvin (2000)
Am J Physiol Cell Physiol 279, C2052-C2066
   Abstract »    Full Text »    PDF »
Splice variants of a ClC-2 chloride channel with differing functional characteristics.
L. P. Cid, M.-I. Niemeyer, A. Ramirez, and F. V. Sepulveda (2000)
Am J Physiol Cell Physiol 279, C1198-C1210
   Abstract »    Full Text »    PDF »
Fast and Slow Gating Relaxations in the Muscle Chloride Channel Clc-1.
A. Accardi and M. Pusch (2000)
J. Gen. Physiol. 116, 433-444
   Abstract »    Full Text »    PDF »
Pharmacological Characterization of Chloride Channels Belonging to the ClC Family by the Use of Chiral Clofibric Acid Derivatives.
M. Pusch, A. Liantonio, L. Bertorello, A. Accardi, A. De Luca, S. Pierno, V. Tortorella, and D. C. Camerino (2000)
Mol. Pharmacol. 58, 498-507
   Abstract »    Full Text »
Expression and canalicular localization of two isoforms of the ClC-3 chloride channel from rat hepatocytes.
K. Shimada, X. Li, G. Xu, D. E. Nowak, L. A. Showalter, and S. A. Weinman (2000)
Am J Physiol Gastrointest Liver Physiol 279, G268-G276
   Abstract »    Full Text »    PDF »
From Tonus to Tonicity: Physiology of CLC Chloride Channels.
S. WALDEGGER and T. J. JENTSCH (2000)
J. Am. Soc. Nephrol. 11, 1331-1339
   Abstract »    Full Text »
Identification of a Novel Member of the Chloride Intracellular Channel Gene Family (CLIC5) That Associates with the Actin Cytoskeleton of Placental Microvilli.
M. Berryman and A. Bretscher (2000)
Mol. Biol. Cell 11, 1509-1521
   Abstract »    Full Text »
Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.
J. Zhang, S. Bendahhou, M. C. Sanguinetti, and L. J. Ptacek (2000)
Neurology 54, 937-942
   Abstract »    Full Text »    PDF »
Mechanism of Inverted Activation of ClC-1 Channels Caused by a Novel Myotonia Congenita Mutation.
J. Zhang, M. C. Sanguinetti, H. Kwiecinski, and L. J. Ptacek (2000)
J. Biol. Chem. 275, 2999-3005
   Abstract »    Full Text »    PDF »
Anion Transport in Heart.
J. R. Hume, D. Duan, M. L. Collier, J. Yamazaki, and B. Horowitz (2000)
Physiol Rev 80, 31-81
   Abstract »    Full Text »    PDF »
Mammalian Distal Tubule: Physiology, Pathophysiology, and Molecular Anatomy.
R. F. Reilly and D. H. Ellison (2000)
Physiol Rev 80, 277-313
   Abstract »    Full Text »    PDF »
CLC Chloride Channels in Caenorhabditis elegans.
A. M. Schriever, T. Friedrich, M. Pusch, and T. J. Jentsch (1999)
J. Biol. Chem. 274, 34238-34244
   Abstract »    Full Text »    PDF »
Voltage-Gated Ion Channels and Hereditary Disease.
F. Lehmann-Horn and K. Jurkat-Rott (1999)
Physiol Rev 79, 1317-1372
   Abstract »    Full Text »    PDF »
Occult Presentation of Myotonia Congenita in a 15-Year-Old Athlete.
J. Weinberg, L. A. Curl, R. W. Kuncl, and E. G. McFarland (1999)
Am. J. Sports Med. 27, 529-531
   Full Text »    PDF »
Founder mutations and the high prevalence of myotonia congenita in northern Finland.
H. Papponen, T. Toppinen, P. Baumann, V. Myllyla, J. Leisti, H. Kuivaniemi, G. Tromp, and R. Myllyla (1999)
Neurology 53, 297
   Abstract »    Full Text »
Ion channel genes and human neurological disease: Recent progress, prospects, and challenges.
E. C. Cooper and L. Y. Jan (1999)
PNAS 96, 4759-4766
   Abstract »    Full Text »    PDF »
The Muscle Chloride Channel ClC-1 Has a Double-Barreled Appearance that Is Differentially Affected in Dominant and Recessive Myotonia.
C. Saviane, F. Conti, and M. Pusch (1999)
J. Gen. Physiol. 113, 457-468
   Abstract »    Full Text »    PDF »
Chloride dependence of hyperpolarization-activated chloride channel gates.
M. Pusch, S.-E. Jordt, V. Stein, and T. J Jentsch (1999)
J. Physiol. 515, 341-353
   Abstract »    Full Text »    PDF »
Regulation of the human skeletal muscle chloride channel hClC-1 by protein kinase C.
A. Rosenbohm, R. Rudel, and C. Fahlke (1999)
J. Physiol. 514, 677-685
   Abstract »    Full Text »    PDF »
Molecular Cloning and Characterization of a Mitogen-activated Protein Kinase-associated Intracellular Chloride Channel.
Z. Qian, D. Okuhara, M. K. Abe, and M. R. Rosner (1999)
J. Biol. Chem. 274, 1621-1627
   Abstract »    Full Text »    PDF »
Mutational Analysis Demonstrates That ClC-4 and ClC-5 Directly Mediate Plasma Membrane Currents.
T. Friedrich, T. Breiderhoff, and T. J. Jentsch (1999)
J. Biol. Chem. 274, 896-902
   Abstract »    Full Text »    PDF »
Ion channels and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders.
M. G HANNA, N. W WOOD, and D. M KULLMANN (1998)
J. Neurol. Neurosurg. Psychiatry 65, 427-431
   Full Text »
Chloride channels and endocytosis: ClC-5 makes a Dent.
A. L. George Jr. (1998)
PNAS 95, 7843-7845
   Full Text »    PDF »
A Recessive Variant of the Romano-Ward Long-QT Syndrome?.
S. G. Priori, P. J. Schwartz, C. Napolitano, L. Bianchi, A. Dennis, M. D. Fusco, A. M. Brown, and G. Casari (1998)
Circulation 97, 2420-2425
   Abstract »    Full Text »    PDF »
Golgi Localization and Functionally Important Domains in the NH2 and COOH Terminus of the Yeast CLC Putative Chloride Channel Gef1p.
B. Schwappach, S. Stobrawa, M. Hechenberger, K. Steinmeyer, and T. J. Jentsch (1998)
J. Biol. Chem. 273, 15110-15118
   Abstract »    Full Text »    PDF »
Effect of transverse-tubular chloride conductance on excitability in skinned skeletal muscle fibres of rat and toad.
J R Coonan and G D Lamb (1998)
J. Physiol. 509, 551-564
   Abstract »    Full Text »    PDF »
Determinants of slow gating in ClC-0, the voltage-gated chloride channel of Torpedo marmorata.
P. Fong, A. Rehfeldt, and T. J. Jentsch (1998)
Am J Physiol Cell Physiol 274, C966-C973
   Abstract »    Full Text »    PDF »
Proton Spectroscopy in Myotonic Dystrophy: Correlations With CTG Repeats.
L. Chang, T. Ernst, D. Osborn, W. Seltzer, M. Leonido-Yee, and R. E. Poland (1998)
Arch Neurol 55, 305-311
   Abstract »    Full Text »    PDF »
Isolation and characterization of kidney-specific ClC-K1 chloride channel gene promoter.
S. Uchida, T. Rai, H. Yatsushige, Y. Matsumura, M. Kawasaki, S. Sasaki, and F. Marumo (1998)
Am J Physiol Renal Physiol 274, F602-F610
   Abstract »    Full Text »    PDF »
Mechanism of Ion Permeation in Skeletal Muscle Chloride Channels.
C. Fahlke, C. Durr, and A. L. George Jr. (1997)
J. Gen. Physiol. 110, 551-564
   Abstract »    Full Text »    PDF »
Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus.
D. A. Adler, E. I. Rugarli, P. A. Lingenfelter, K. Tsuchiya, D. Poslinski, H. D. Liggitt, V. M. Chapman, R. W. Elliott, A. Ballabio, and C. M. Disteche (1997)
PNAS 94, 9244-9248
   Abstract »    Full Text »    PDF »
Reconstitution of Functional Voltage-gated Chloride Channels from Complementary Fragments of CLC-1.
T. Schmidt-Rose and T. J. Jentsch (1997)
J. Biol. Chem. 272, 20515-20521
   Abstract »    Full Text »    PDF »
Inward Rectification in ClC-0 Chloride Channels Caused by Mutations in Several Protein Regions.
U. Ludewig, T. J. Jentsch, and M. Pusch (1997)
J. Gen. Physiol. 110, 165-171
   Abstract »    Full Text »    PDF »
Transmembrane topology of a CLC chloride channel.
T. Schmidt-Rose and T. J. Jentsch (1997)
PNAS 94, 7633-7638
   Abstract »    Full Text »    PDF »
Ion Channels -- Basic Science and Clinical Disease.
M. J. Ackerman and D. E. Clapham (1997)
N. Engl. J. Med. 336, 1575-1586
   Full Text »    PDF »
A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
C. Fahlke, C. L. Beck, and A. L. George Jr. (1997)
PNAS 94, 2729-2734
   Abstract »    Full Text »    PDF »
Myotonic Disorders in Childhood: Diagnosis and Treatment.
R. T. Moxley (1997)
J Child Neurol 12, 116-129
   Abstract »    PDF »
Temperature Dependence of Fast and Slow Gating Relaxations of ClC-0 Chloride Channels.
M. Pusch, U. Ludewig, and T. J. Jentsch (1997)
J. Gen. Physiol. 109, 105-116
   Abstract »    Full Text »    PDF »
A Family of Putative Chloride Channels from Arabidopsis and Functional Complementation of a Yeast Strain with a CLC Gene Disruption.
M. Hechenberger, B. Schwappach, W. N. Fischer, W. B. Frommer, T. J. Jentsch, and K. Steinmeyer (1996)
J. Biol. Chem. 271, 33632-33638
   Abstract »    Full Text »    PDF »
Heteromultimeric CLC chloride channels with novel properties.
C. Lorenz, M. Pusch, and T. J. Jentsch (1996)
PNAS 93, 13362-13366
   Abstract »    Full Text »    PDF »
REVIEW {blacksquare} : Chloride Channel Myotonias.
K. Steinmeyer and T. J. Jentsch (1996)
Neuroscientist 2, 225-232
   Abstract »    PDF »
Absence of the Skeletal Muscle Sarcolemma Chloride Channel ClC-1 in Myotonic Mice.
C. A. Gurnett, S. D. Kahl, R. D. Anderson, and K. P. Campbell (1995)
J. Biol. Chem. 270, 9035-9038
   Abstract »    Full Text »    PDF »
Proximal Myotonic Myopathy: Clinical Features of a Multisystem Disorder Similar to Myotonic Dystrophy.
K. Ricker, M. C. Koch, F. Lehmann-Horn, D. Pongratz, N. Speich, K. Reiners, C. Schneider, and R. T. Moxley III (1995)
Arch Neurol 52, 25-31
   Abstract »    PDF »
Myotonia Fluctuans: A Third Type of Muscle Sodium Channel Disease.
K. Ricker, R. T. Moxley III, R. Heine, and F. Lehmann-Horn (1994)
Arch Neurol 51, 1095-1102
   Abstract »    PDF »
Duchenne-Becker Muscular Dystrophy and the Nondystrophic Myotonias: Paradigms for Loss of Function and Change of Function of Gene Products.
E. P. Hoffman and J. Wang (1993)
Arch Neurol 50, 1227-1237
   Abstract »    PDF »
Genotype-Phenotype Correlations in Human Skeletal Muscle Sodium Channel Diseases.
R. Rudel, K. Ricker, and F. Lehmann-Horn (1993)
Arch Neurol 50, 1241-1248
   Abstract »    PDF »
Molecular genetics of neurological diseases.
J. Martin (1993)
Science 262, 674-676
   PDF »
Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene.
B. B. Roa, C. A. Garcia, U. Suter, D. A. Kulpa, C. A. Wise, J. Mueller, A. A. Welcher, G. J. Snipes, E. M. Shooter, P. I. Patel, et al. (1993)
N. Engl. J. Med. 329, 96-101
   Abstract »    Full Text »
Genetics and Physiology of the Myotonic Muscle Disorders.
L. J. Ptacek, K. J. Johnson, and R. C. Griggs (1993)
N. Engl. J. Med. 328, 482-489
   Full Text »
Phospholemman Is a Substrate for Myotonic Dystrophy Protein Kinase.
J. P. Mounsey, J. E. John III, S. M. Helmke, E. W. Bush, J. Gilbert, A. D. Roses, M. B. Perryman, L. R. Jones, and J. R. Moorman (2000)
J. Biol. Chem. 275, 23362-23367
   Abstract »    Full Text »    PDF »
An Internalization Signal in ClC-5, an Endosomal Cl- Channel Mutated in Dent's Disease.
M. Schwake, T. Friedrich, and T. J. Jentsch (2001)
J. Biol. Chem. 276, 12049-12054
   Abstract »    Full Text »    PDF »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)