Results 21 to 30 of about 2,738 (205)

Comprehensive bioinformatic analysis identifies potential therapeutic drugs for CryAB (R120G)-related cardiomyopathy. [PDF]

BMC Cardiovasc Disord
CryAB, known as Alpha-B Crystallin, has also been shown to bind and increase the unfolding force of the filamentous protein. Mutation of CryAB at R120G causes serious cardiomyopathy but lacks ideal therapeutic drugs.
Zheng J, Liu Y, Wang J, Hu J, Qiu W, Su M.   +5 more
europepmc   +2 more sources

High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report. [PDF]

J Med Case Rep
Background Severe neonatal episodic laryngospasm has been previously reported in multiple patients with the heterozygous pathogenic variant G1306E in SCN4A.
Ogueri V, Chong J, Fleming M, Simpson K, Sherwin E, Bharucha-Goebel D, Spurney C.   +6 more
europepmc   +2 more sources

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita. [PDF]

Front Genet
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1.
Lucchiari S, Fortunato F, Meola G, Mignarri A, Pagliarani S, Corti S, Comi GP, Ronchi D.   +7 more
europepmc   +3 more sources

Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people

Medicine, 2022
Background: This study aimed to characterize the genetic, pathological, and clinical alterations of 17 patients in China presenting with nondystrophic myotonia (NDM) and to analyze the relationship between genotype and clinical phenotype.
Yan-Xin Meng, Mei Yu, Chunmiao Liu, Haijuan Zhang, Yuxiu Yang, Jing Zhang   +5 more
openaire   +2 more sources

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family

Frontiers in Genetics, 2023
Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Nurul Huda Musa, Nurul Huda Musa, Karuppiah Thilakavathy, Karuppiah Thilakavathy, Nur Afiqah Mohamad, Nur Afiqah Mohamad, Marina L. Kennerson, Marina L. Kennerson, Liyana Najwa Inche Mat, Wei Chao Loh, Anna Misyail Abdul Rashid, Janudin Baharin, Azliza Ibrahim, Wan Aliaa Wan Sulaiman, Fan Kee Hoo, Hamidon Basri, Abdul Hanif Khan Yusof Khan   +16 more
doaj   +1 more source

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

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

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

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