| Clinical and genetic characteristics of myotonia congenita in Chinese population. | Clinical and genetic characteristics of myotonia congenita in Chinese population.
He Y, Qiu Y, Xiong Y, Shen Y, Jiang K, Yi H, Huang P, Zhu Y, Zhu M, Zhou M, Hong D, Tan D., Free PMC Article | 07/9/2024 |
| [A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene]. | [A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].
Nakamura Y, Sato H, Kakiuchi K, Miyano Y, Hosokawa T, Arawaka S. | 05/30/2024 |
| Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study. | Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.
Vacchiano V, Brugnoni R, Campanale C, Imbrici P, Dinoi G, Canioni E, Laghetti P, Saltarella I, Altamura C, Maggi L, Liguori R, Donadio V, Desaphy JF. | 03/7/2023 |
| Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. | Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.
Meng YX, Yu M, Liu C, Zhang H, Yang Y, Zhang J., Free PMC Article | 08/6/2022 |
| Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis. | Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
Liang H, Li N, Yao RE, Yu T, Ding L, Chen J, Wang J., Free PMC Article | 03/19/2022 |
| Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita. | Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.
Souza LS, Calyjur P, Ribeiro AF Jr, Gurgel-Giannetti J, Pavanello RCM, Zatz M, Vainzof M. | 02/26/2022 |
| Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients. | Functional and Structural Characterization of ClC-1 and Na(v)1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.
Brenes O, Barbieri R, Vásquez M, Vindas-Smith R, Roig J, Romero A, Valle GD, Bermúdez-Guzmán L, Bertelli S, Pusch M, Morales F., Free PMC Article | 10/16/2021 |
| Mutation spectrum and health status in skeletal muscle channelopathies in Japan. | Mutation spectrum and health status in skeletal muscle channelopathies in Japan.
Sasaki R, Nakaza M, Furuta M, Fujino H, Kubota T, Takahashi MP. | 08/14/2021 |
| Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant. | Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.
Avila-Smirnow D, Vargas Leal CP, Beytía Reyes MLA, Cortés Zepeda R, Escobar RG, Kleinsteuber Saa K, Lagos Lucero M, Avaria Benapres MLA, Padilla Pérez O, Casar Leturia JC, Mellado Sagredo C, Sternberg D. | 08/14/2021 |
| Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence. | Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence.
Jehasse K, Jacquerie K, de Froidmont A, Lemoine C, Grisar T, Stouffs K, Lakaye B, Seutin V., Free PMC Article | 08/7/2021 |
| Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report. | Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.
Sparber P, Sharova M, Filatova A, Shchagina O, Ivanova E, Dadali E, Skoblov M., Free PMC Article | 01/9/2021 |
| Twenty-eight different pathogenic variants were found in the CLCN1 gene, of which 21 were known mutations and seven not described. A diagnostic yield of 51% was achieved; of which 88% had pathogenic variants in CLCN1 and 12% in SCN4A. | Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP, De Castro CP, Gómez-González C, Martínez-Montero P, Pascual Pascual SI, Molano Mateos J. | 02/15/2020 |
| Abundance of ClC-1 was higher in fast compared with slow twitch fibers. | Abundance of ClC-1 chloride channel in human skeletal muscle: fiber type specific differences and effect of training.
Thomassen M, Hostrup M, Murphy RM, Cromer BA, Skovgaard C, Gunnarsson TP, Christensen PM, Bangsbo J. | 11/16/2019 |
| This study improves our understanding of the mechanisms underlying MC, sheds light on the role of the C-terminal region in ClC-1 function, and provides information to develop new antimyotonic drugs. | The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Altamura C, Lucchiari S, Sahbani D, Ulzi G, Comi GP, D'Ambrosio P, Petillo R, Politano L, Vercelli L, Mongini T, Dotti MT, Cardani R, Meola G, Lo Monaco M, Matthews E, Hanna MG, Carratù MR, Conte D, Imbrici P, Desaphy JF. | 07/27/2019 |
| The distinction between CLC-0/1/2 channels and CLC transporters seems undetectable by amino acid sequence; to understand why they are different functionally, study determined the structure of the human CLC-1 channel. subtle differences in glutamate gate conformation, internal pore diameter and Cl(-) affinity distinguish CLC channels and transporters. | Structure of the CLC-1 chloride channel from Homo sapiens.
Park E, MacKinnon R., Free PMC Article | 04/27/2019 |
| FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane | FKBP8 Enhances Protein Stability of the CLC-1 Chloride Channel at the Plasma Membrane.
Peng YJ, Lee YC, Fu SJ, Chien YC, Liao YF, Chen TY, Jeng CJ, Tang CY., Free PMC Article | 03/16/2019 |
| The novel missense CLCN1 mutations is associated with a family affected with myotonia congenital. | [Analysis of CLCN1 gene mutations in a family affected with myotonia congenita].
Jing F, Li H, Yang D, Chen T, Liu Y, Yu L. | 12/22/2018 |
| Loss-of- function mutations in the CLCN1 gene located on 7q35, are the primary contributors to the pathogenesis of Thomsen myotonia | Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.
Cassone M, Ferradini V, Longo G, Sarchielli P, Murasecco D, Romoli M, Pasquini E, Novelli G, Prontera P, Sangiuolo F. | 09/1/2018 |
| Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90beta as a molecular model for myotonia congenita has been described. | Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β.
Peng YJ, Huang JJ, Wu HH, Hsieh HY, Wu CY, Chen SC, Chen TY, Tang CY., Free PMC Article | 05/19/2018 |
| the spectrum of CLCN1 mutations in patients with Myotonia Congenita | Targeted Next Generation Sequencing in patients with Myotonia Congenita.
Ferradini V, Cassone M, Nuovo S, Bagni I, D'Apice MR, Botta A, Novelli G, Sangiuolo F. | 01/13/2018 |
| Combining our results with the literature on Chinese populations indicates that 21 mutations in CLCN1 have been associated with myotonia congenital, while 7 mutations in SCN4A have been associated with paramyotonia congenita, 2 mutations in SCN4A have been associated with sodium channel myotonias. | Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
Yang X, Jia H, An R, Xi J, Xu Y., Free PMC Article | 10/21/2017 |
| report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype | Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.
Imbrici P, Altamura C, Camerino GM, Mangiatordi GF, Conte E, Maggi L, Brugnoni R, Musaraj K, Caloiero R, Alberga D, Marsano RM, Ricci G, Siciliano G, Nicolotti O, Mora M, Bernasconi P, Desaphy JF, Mantegazza R, Camerino DC., Free PMC Article | 09/9/2017 |
| The present study is the first demonstration of ClC-1 regulation in active human muscle, and it provides a detailed description of the involvement of PKC and ClC-1 in the down-regulation of Gm during AP-firing activity in human skeletal muscle fibres | Protein kinase C-dependent regulation of ClC-1 channels in active human muscle and its effect on fast and slow gating.
Riisager A, de Paoli FV, Yu WP, Pedersen TH, Chen TY, Nielsen OB., Free PMC Article | 08/19/2017 |
| This study, novel mutations in CLCN1 were detected, and the spectrum of CLCN1 mutations known to be associated with MC was expanded. | Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.
Meng YX, Zhao Z, Shen HR, Bing Q, Hu J. | 01/14/2017 |
| our study confirms the presence of the myotonia causing CLCN1 mutations p.F167L and p.R105C in the Costa Rican population. | Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
Vindas-Smith R, Fiore M, Vásquez M, Cuenca P, Del Valle G, Lagostena L, Gaitán-Peñas H, Estevez R, Pusch M, Morales F. | 10/22/2016 |