Results 31 to 40 of about 2,733 (194)

A Cell-Based Double Reporter Gene Splicing Assay for Therapeutic Screening in Myotonic Dystrophy

The EuroBiotech Journal, 2023
The study has developed a model splicing construct assay system based on splicing misregulation, one of the major molecular features associated with myotonic dystrophy.
Udosen Inyang U., Granados Javier T., Brook John David   +2 more
doaj   +1 more source

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

Frontiers in Neurology, 2022
Myotonia congenita is a rare neuromuscular disorder caused by CLCN1 mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac ...
Ann Cordenier, Anja Flamez, Thomy de Ravel, Alexander Gheldof, Luigi Pannone, Carlo De Asmundis, Gudrun Pappaert, Véronique Bissay   +7 more
doaj   +1 more source

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. [PDF]

PLoS ONE, 2013
Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1).
Daniela Skálová, Jana Zídková, Stanislav Voháňka, Radim Mazanec, Zuzana Mušová, Petr Vondráček, Lenka Mrázová, Josef Kraus, Kamila Réblová, Lenka Fajkusová   +9 more
doaj   +1 more source

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients

Frontiers in Pediatrics, 2021
Background:CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of
Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Xihua Li   +4 more
doaj   +1 more source

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

PLoS ONE, 2020
Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride channel CLC-1 and the SCN4A gene encoding voltage-gated sodium channel Nav1.4.
Chenyu Zhao, DongFang Tang, Hui Huang, Haiyan Tang, Yuan Yang, Min Yang, Yingying Luo, Huai Tao, Jianguang Tang, Xi Zhou, Xiaoliu Shi   +10 more
doaj   +1 more source

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
Three‐related cats were evaluated for a history of short‐strided gait and temporary recumbency after startle. Neurological examination, electromyography (EMG), muscle biopsies, and a chloride voltage‐gated channel 1 (CLCN1) molecular study were performed.
Sílvia Corrêa, Roberta Martins Basso, Fabricio Moreira Cerri, José Paes deOliveira‐Filho, João Pessoa Araújo Jr, Sandra Regina Torelli, Livia Pinheiro Chagas da Cunha Salán, Maurício Oliveira Salán, Isabella Zeque Macedo, Alexandre Secorun Borges   +9 more
doaj   +1 more source

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations

Biomedicines, 2023
Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and ...
Oscar Brenes, Michael Pusch, Fernando Morales   +2 more
doaj   +1 more source

Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β. [PDF]

, 2016
Mutations in human CLC-1 chloride channel are associated with the skeletal muscle disorder myotonia congenita. The disease-causing mutant A531V manifests enhanced proteasomal degradation of CLC-1.
Chen, Shu-Ching, Chen, Tsung-Yu, Hsieh, Hsin-Ying, Huang, Jing-Jia, Peng, Yi-Jheng, Tang, Chih-Yung, Wu, Chia-Ying, Wu, Hao-Han   +7 more
core   +1 more source

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review

Channels, 2022
Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle.
Yifan Li, Mao Li, Zhenfu Wang, Fei Yang, Hongfen Wang, Xiujuan Bai, Bo Sun, Siyu Chen, Xusheng Huang   +8 more
doaj   +1 more source

Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I [PDF]

, 2017
Myotonic dystrophy type I (DM1) is a disabling multisystemic disease that predominantly affects skeletal muscle. It is caused by expanded CTG repeats in the 3'-UTR of the dystrophia myotonica protein kinase (DMPK) gene.
Beat Erne, Christopher Eickhorst, Corrado Angelini, Denis, Denis Furling, Dunne, Hart, Kathrin Chojnowska, Laustriat, Lee, Li, Lueck, Marielle Brockhoff, Markus A. Rüegg, Michael Sinnreich, Mizushima, Nathalie Rion, Perrine Castets, Stephan Frank, Tatiana Wiktorowicz   +19 more
core   +4 more sources