| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| F Lehmann-Horn, M Orth, M Kuhn, K Jurkat-Rot. A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 30. issue 2. 2012-01-10. PMID:22106717. |
a novel n440k sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of clcn1 exon deletion/duplication by mlpa. |
2012-01-10 |
2023-08-12 |
Not clear |
| In-Soo Moon, Hyang-Sook Kim, Jin-Hong Shin, Yeong-Eun Park, Kyu-Hyun Park, Yong-Bum Shin, Jong Seok Bae, Young-Chul Choi, Dae-Seong Ki. Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita. Journal of Korean medical science. vol 24. issue 6. 2010-01-27. PMID:19949657. |
myotonia congenita (mc) is a form of nondystrophic myotonia caused by a mutation of clcn1, which encodes human skeletal muscle chloride channel (clc-1). |
2010-01-27 |
2023-08-12 |
human |
| Yoshihiro Kino, Chika Washizu, Yoko Oma, Hayato Onishi, Yuriko Nezu, Noboru Sasagawa, Nobuyuki Nukina, Shoichi Ishiur. MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucleic acids research. vol 37. issue 19. 2009-12-21. PMID:19720736. |
increased exon 7a inclusion leads to a reduction in clcn1 function, which can be causative of myotonia. |
2009-12-21 |
2023-08-12 |
mouse |
| Nicolas Dupré, Nicolas Chrestian, Jean-Pierre Bouchard, Elsa Rossignol, Denis Brunet, Damien Sternberg, Bernard Brais, Jean Mathieu, Jack Puymira. Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. Neuromuscular disorders : NMD. vol 19. issue 5. 2009-07-28. PMID:18337100. |
onset in the lower extremities, presence of tongue myotonia and transient weakness suggested recessive clcn1 mutations. |
2009-07-28 |
2023-08-12 |
human |
| Robert J Osborne, Xiaoyan Lin, Stephen Welle, Krzysztof Sobczak, Jason R O'Rourke, Maurice S Swanson, Charles A Thornto. Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. Human molecular genetics. vol 18. issue 8. 2009-07-06. PMID:19223393. |
a gene that is prominently affected encodes chloride channel 1 (clcn1), resulting in hyperexcitability of muscle (myotonia). |
2009-07-06 |
2023-08-12 |
mouse |
| Jeroen Trip, Gea Drost, Dennis J Verbove, Anneke J van der Kooi, Jan B M Kuks, Nicolette C Notermans, Jan J Verschuuren, Marianne de Visser, Baziel G M van Engelen, Carin G Faber, Ieke B Ginjaa. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. European journal of human genetics : EJHG. vol 16. issue 8. 2008-09-23. PMID:18337730. |
in tandem analysis of clcn1 and scn4a greatly enhances mutation detection in families with non-dystrophic myotonia. |
2008-09-23 |
2023-08-12 |
Not clear |
| Jeroen Trip, Gea Drost, Dennis J Verbove, Anneke J van der Kooi, Jan B M Kuks, Nicolette C Notermans, Jan J Verschuuren, Marianne de Visser, Baziel G M van Engelen, Carin G Faber, Ieke B Ginjaa. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. European journal of human genetics : EJHG. vol 16. issue 8. 2008-09-23. PMID:18337730. |
non-dystrophic myotonias (ndms) are caused by mutations in clcn1 or scn4a. |
2008-09-23 |
2023-08-12 |
Not clear |
| Jeroen Trip, Gea Drost, Dennis J Verbove, Anneke J van der Kooi, Jan B M Kuks, Nicolette C Notermans, Jan J Verschuuren, Marianne de Visser, Baziel G M van Engelen, Carin G Faber, Ieke B Ginjaa. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. European journal of human genetics : EJHG. vol 16. issue 8. 2008-09-23. PMID:18337730. |
in total, 20% (8 of 40) of our probands with suspected chloride channel myotonia showed no clcn1 mutations but subsequent scn4a screening revealed mutations in all of them. |
2008-09-23 |
2023-08-12 |
Not clear |
| Minqi Hao, Kevan Akrami, Ke Wei, Carlos De Diego, Nam Che, Jeong-Hee Ku, James Tidball, Michael C Graves, Perry B Shieh, Fabian Che. Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy. Developmental dynamics : an official publication of the American Association of Anatomists. vol 237. issue 2. 2008-06-16. PMID:18213585. |
we also find defective expression and mrna splicing of the chloride channel (clcn1) in skeletal muscle that likely contributes to the myotonia phenotype. |
2008-06-16 |
2023-08-12 |
mouse |
| Geneviève Bernard, Chantal Poulin, Jack Puymirat, Damien Sternberg, Michael Shevel. Dosage effect of a dominant CLCN1 mutation: a novel syndrome. Journal of child neurology. vol 23. issue 2. 2008-03-25. PMID:18263754. |
electromyography confirmed myotonia, and molecular analysis revealed 2 copies of the t310m mutation on the clcn1 gene. |
2008-03-25 |
2023-08-12 |
Not clear |
| E Rossignol, J Mathieu, I Thiffault, M Tétreault, M-J Dicaire, N Chrestian, N Dupré, J Puymirat, B Brai. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology. vol 69. issue 20. 2007-12-07. PMID:17998485. |
myotonia is observed in classic congenital myotonia caused by clcn1 mutations and in sodium-channel myotonia (scm) due to scn4a mutations. |
2007-12-07 |
2023-08-12 |
Not clear |
| Daniel F Finnigan, W J Brad Hanna, Roberto Poma, Andrew J Bendal. A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog. Journal of veterinary internal medicine. vol 21. issue 3. 2007-07-09. PMID:17552451. |
a novel mutation of the clcn1 gene associated with myotonia hereditaria in an australian cattle dog. |
2007-07-09 |
2023-08-12 |
mouse |
| John D Lueck, Ami Mankodi, Maurice S Swanson, Charles A Thornton, Robert T Dirkse. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. The Journal of general physiology. vol 129. issue 1. 2007-02-22. PMID:17158949. |
transgenic mice engineered to express mrna with expanded (cug)(250) repeats (hsa(lr) mice) exhibit prominent myotonia and altered splicing of muscle chloride channel gene (clcn1) transcripts. |
2007-02-22 |
2023-08-12 |
mouse |
| John D Lueck, Ami Mankodi, Maurice S Swanson, Charles A Thornton, Robert T Dirkse. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. The Journal of general physiology. vol 129. issue 1. 2007-02-22. PMID:17158949. |
qualitatively similar results were observed for clc-1 channel activity in knockout mice for muscleblind-like 1 (mbnl1(deltae3/deltae3)), a second murine model of dm1 that exhibits prominent myotonia and altered clcn1 splicing (kanadia et al., 2003). |
2007-02-22 |
2023-08-12 |
mouse |
| John D Lueck, Ami Mankodi, Maurice S Swanson, Charles A Thornton, Robert T Dirkse. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. The Journal of general physiology. vol 129. issue 1. 2007-02-22. PMID:17158949. |
these results support a molecular mechanism for myotonia in dm1 in which a reduction in both the number of functional sarcolemmal clc-1 and maximal channel open probability, as well as an acceleration in the kinetics of channel deactivation, results from cug repeat-containing mrna molecules sequestering mbnl1 proteins required for proper clcn1 pre-mrna splicing and chloride channel function. |
2007-02-22 |
2023-08-12 |
mouse |
| Fen-Fen Wu, Aisling Ryan, Joseph Devaney, Maike Warnstedt, Zeljka Korade-Mirnics, Barbara Poser, Maria Jose Escriva, Elena Pegoraro, Audrey S Yee, Kevin J Felice, Michael J Giuliani, Richard F Mayer, Tiziana Mongini, Laura Palmucci, Michael Marino, Reinhardt Rüdel, Eric P Hoffman, Christoph Fahlk. Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain : a journal of neurology. vol 125. issue Pt 11. 2002-12-13. PMID:12390967. |
we systematically screened all 23 exons of the clcn1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. |
2002-12-13 |
2023-08-12 |
human |
| Michael Pusc. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Human mutation. vol 19. issue 4. 2002-08-30. PMID:11933197. |
myotonia caused by mutations in the muscle chloride channel gene clcn1. |
2002-08-30 |
2023-08-12 |
Not clear |
| Michael Pusc. Myotonia caused by mutations in the muscle chloride channel gene CLCN1. Human mutation. vol 19. issue 4. 2002-08-30. PMID:11933197. |
pure non-syndromic, non-dystrophic myotonia in humans is caused by mutations in the genes coding for the skeletal muscle sodium channel (scn5a) or the skeletal muscle chloride channel (clcn1) with similar phenotypes. |
2002-08-30 |
2023-08-12 |
Not clear |
| Hai Wu, Eric N Olso. Activation of the MEF2 transcription factor in skeletal muscles from myotonic mice. The Journal of clinical investigation. vol 109. issue 10. 2002-06-07. PMID:12021248. |
becker syndrome, a recessive nondystrophic myotonia caused by mutations in the chloride channel 1 gene (clcn1), is characterized by delayed muscle relaxation after contraction. |
2002-06-07 |
2023-08-12 |
mouse |
| C Sun, L Tranebjaerg, T Torbergsen, G Holmgren, M Van Ghelu. Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. European journal of human genetics : EJHG. vol 9. issue 12. 2002-05-07. PMID:11840191. |
both types are characterised by myotonia (muscle stiffness) and muscular hypertrophy, and are caused by mutations in the muscle chloride channel gene, clcn1. |
2002-05-07 |
2023-08-12 |
Not clear |