| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Héctor Gaitán-Peñas, Carla Pérez-Rius, Ashraf Muhaisen, Aida Castellanos, Ekaitz Errasti-Murugarren, Alejandro Barrallo-Gimeno, Francisca Alcaraz-Pérez, Raúl Estéve. Characterization of ClC-1 chloride channels in zebrafish: a new model to study myotonia. The Journal of physiology. 2024-07-20. PMID:39031529. |
our work extends the repertoire of clc channels to evolutionary structure-function studies and proposes the zebrafish clcn1 crispant model as a simple tool to find novel therapies for myotonia. |
2024-07-20 |
2024-07-24 |
human |
| Carmen Campanale, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Eleonora Canioni, Emanuele Iosa, Lorenzo Maggi, Raffaella Brugnoni, Paolo Tacconi, Jean-François Desaph. A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia. Journal of neuromuscular diseases. 2024-03-01. PMID:38427496. |
the nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the scn4a gene or loss-of-function mutations in the clcn1 gene. |
2024-03-01 |
2024-03-04 |
Not clear |
| Laura Nørager Jacobsen, Mads Godtfeldt Stemmerik, Sofie Vinther Skriver, Jonas Jalili Pedersen, Nicoline Løkken, John Vissin. Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita. European journal of neurology. 2024-01-25. PMID:38270354. |
myotonia congenita (mc) is a muscle channelopathy in which pathogenic variants in a key sarcolemmal chloride channel gene (clcn1) cause myotonia. |
2024-01-25 |
2024-01-27 |
Not clear |
| Corrigendum to: A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog. Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc. 2023-09-08. PMID:37681685. |
corrigendum to: a complex clcn1 variant associated with hereditary myotonia in a mixed-breed dog. |
2023-09-08 |
2023-10-07 |
dog |
| Sílvia Corrêa, Roberta Martins Basso, Fabricio Moreira Cerri, José Paes de Oliveira-Filho, João Pessoa Araújo, Sandra Regina Torelli, Livia Pinheiro Chagas da Cunha Salán, Maurício Oliveira Salán, Isabella Zeque Macedo, Alexandre Secorun Borge. Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC-1. Journal of veterinary internal medicine. 2023-09-05. PMID:37668104. |
this is the third clcn1 mutation described in the literature associated with hereditary myotonia in cats and the first in domestic animals located in an extracellular muscle clc-1 loop. |
2023-09-05 |
2023-09-07 |
human |
| Gökçen Öz Tunçer, Aslıhan Sanri, Seren Aydin, Özlem M Hergüner, Nezir Özgün, Mustafa Kömür, Dilara F İçağasioğlu, Rabia Tütüncü Toker, Sanem Yilmaz, Elif Acar Arslan, Mesut Güngör, Gültekin Kutluk, İlknur Erol, Gülen Gül Mert, Burçin Gönüllü Polat, Ayşe Akso. Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children. Journal of neuromuscular diseases. 2023-06-25. PMID:37355912. |
myotonia congenita is the most common form of nondystrophic myotonia and is caused by mendelian inherited mutations in the clcn1 gene encoding the voltage-gated chloride channel of skeletal muscle. |
2023-06-25 |
2023-08-14 |
Not clear |
| João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigue. Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report. BMC neurology. vol 23. issue 1. 2023-04-27. PMID:37106355. |
neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on pnpla2 and clcn1 genes: case report. |
2023-04-27 |
2023-08-14 |
Not clear |
| João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigue. Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report. BMC neurology. vol 23. issue 1. 2023-04-27. PMID:37106355. |
we will report a rare case of association of pathogenic variants on pnpla2 and clcn1 genes with a mixed phenotype of nlsd-m and a subclinical form of thomsen's congenital myotonia. |
2023-04-27 |
2023-08-14 |
Not clear |
| Ningyan Hu, Eunjoo Kim, Layal Antoury, Thurman M Wheele. Correction of Clcn1 alternative splicing reverses muscle fiber type transition in mice with myotonic dystrophy. Nature communications. vol 14. issue 1. 2023-04-07. PMID:37029100. |
in myotonic dystrophy type 1 (dm1), deregulated alternative splicing of the muscle chloride channel clcn1 causes myotonia, a delayed relaxation of muscles due to repetitive action potentials. |
2023-04-07 |
2023-08-14 |
mouse |
| M F Martos-Lirio, R Calvo-Medina, C Ruiz-García, J M Ramos-Fernánde. [Congenital myotonia. Incidence and presentation of a series of cases]. Revista de neurologia. vol 76. issue 4. 2023-02-14. PMID:36782350. |
myotonia congenita is the most common form of genetic myotonia and is caused by mutations in the clcn1 gene. |
2023-02-14 |
2023-08-14 |
Not clear |
| Veria Vacchiano, Raffaella Brugnoni, Carmen Campanale, Paola Imbrici, Giorgia Dinoi, Canioni Eleonora, Paola Laghetti, Ilaria Saltarella, Concetta Altamura, Lorenzo Maggi, Rocco Liguori, Vincenzo Donadio, Jean-François Desaph. Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study. Experimental neurology. 2023-01-31. PMID:36720299. |
myotonia congenita caused by clcn1 gene mutations, as well as paramyotonia congenita and sodium channel myotonia caused by scn4a gene mutations. |
2023-01-31 |
2023-08-14 |
Not clear |
| Jun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, Masahiro Ando, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Hiroshi Takashim. Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study. Journal of neurology. 2022-07-30. PMID:35907044. |
non-dystrophic myotonias (ndm) are rare skeletal muscle channelopathies, mainly linked to two voltage-gated ion channel genes, clcn1 and scn4a. |
2022-07-30 |
2023-08-14 |
Not clear |
| Jun-Hui Yuan, Yujiro Higuchi, Akihiro Hashiguchi, Masahiro Ando, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Hiroshi Takashim. Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study. Journal of neurology. 2022-07-30. PMID:35907044. |
compared to patients with clcn1 variants, patients harboring scn4a variants showed younger onset age (5.64 ± 4.70 years vs. 9.23 ± 5.21 years), fewer warm-up phenomenon, but more paramyotonia, hyperckemia, transient muscle weakness, and cold-induced myotonia. |
2022-07-30 |
2023-08-14 |
Not clear |
| Yan-Xin Meng, Mei Yu, Chunmiao Liu, Haijuan Zhang, Yuxiu Yang, Jing Zhan. Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. Medicine. vol 101. issue 29. 2022-07-22. PMID:35866763. |
sequence clcn1 and scn4a genes in patients with nondystrophic myotonia in chinese people. |
2022-07-22 |
2023-08-14 |
Not clear |
| Sara Locci, Rosanna Cardani, Paola Brunori, Sabrina Lucchiari, Giacomo P Comi, Antonio Federico, Nicola De Stefano, Giovanni Meola, Andrea Mignarr. Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 42. issue 12. 2021-12-06. PMID:34386887. |
co-occurrence of dmpk expansion and clcn1 mutation in a patient with myotonia. |
2021-12-06 |
2023-08-13 |
Not clear |
| Lucas Santos Souza, Priscila Calyjur, Antonio Fernando Ribeiro, Juliana Gurgel-Giannetti, Rita Cassia Mingroni Pavanello, Mayana Zatz, Mariz Vainzo. Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. Journal of molecular neuroscience : MN. vol 71. issue 11. 2021-11-12. PMID:33464536. |
two allelic forms are recognized, depending on the phenotype and the inheritance pattern: the autosomal dominant thomsen disease with milder symptoms and the autosomal recessive becker disorder with a severe phenotype. before the recent advances of molecular testing, the diagnosis and genetic counseling of families was a challenge due to the large number of mutations in the clcn1 gene, found both in homozygous or in heterozygous state. here, we studied a consanguineous family in which three members presented a variable phenotype of myotonia, associated to a combination of three different mutations in the clcn1 gene. |
2021-11-12 |
2023-08-13 |
Not clear |
| Daiane de Jesus Rodrigues, Adilson Donizeti Damasceno, César Erineudo Tavares de Araújo, Sandra Regina Torelli, Luine Gabriela Hilário Fonseca, Diego José Zanzarini Delfiol, José Paes de Oliveira-Filho, João Pessoa Araújo-Júnior, Alexandre Secorun Borge. Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene. Neuromuscular disorders : NMD. vol 30. issue 12. 2021-10-14. PMID:33246886. |
hereditary myotonia in american bulldog associated with a novel frameshift mutation in the clcn1 gene. |
2021-10-14 |
2023-08-13 |
dog |
| Daiane de Jesus Rodrigues, Adilson Donizeti Damasceno, César Erineudo Tavares de Araújo, Sandra Regina Torelli, Luine Gabriela Hilário Fonseca, Diego José Zanzarini Delfiol, José Paes de Oliveira-Filho, João Pessoa Araújo-Júnior, Alexandre Secorun Borge. Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene. Neuromuscular disorders : NMD. vol 30. issue 12. 2021-10-14. PMID:33246886. |
in this study, an affected american bulldog with hm clinically characterized by muscle hypertrophy, myotonic discharges, and nondystrophic myotonia with a "warm-up" phenomenon was evaluated, and the candidate canine clcn1 gene was sequenced. |
2021-10-14 |
2023-08-13 |
dog |
| Nezir Özgün, Hasan Taşlıder. Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene. The Turkish journal of pediatrics. vol 62. issue 3. 2021-08-19. PMID:32558419. |
congenital myotonia: a review of twenty cases and a new splice-site mutation in the clcn1 gene. |
2021-08-19 |
2023-08-13 |
Not clear |
| Nezir Özgün, Hasan Taşlıder. Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene. The Turkish journal of pediatrics. vol 62. issue 3. 2021-08-19. PMID:32558419. |
congenital myotonia (cm) is a disease caused by mutations in the skeletal muscle chloride channel gene (clcn1). |
2021-08-19 |
2023-08-13 |
Not clear |