Results 31 to 40 of about 2,226 (158)
Clinical Characteristics and Analysis ofCLCN1in Patients with "EMG Disease" [PDF]
Journal of Clinical Neurology, 2012 While the etiology and clinical features of "EMG disease" - which is characterized by diffusely increased insertional activity on needle electromyography (EMG) in the absence of neuromuscular disease - are not well known, some authorities believe it may be a form of myotonia congenita (MC). The aims of this study were to determine the clinical features
Nam, Tai-Seung +5 more
openaire +2 more sources
Frontiers in Neurology, 2020 Introduction: Inherited myotonic disorders are genetically heterogeneous and associated with overlapping clinical features of muscle stiffness, weakness, and pain. Data on genotype-phenotype correlations are limited.
Alayne P. Meyer +6 more
doaj +1 more source
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia [PDF]
European Journal of Human Genetics, 2001 Myotonia congenita is a non-dystrophic muscle disorder affecting the excitability of the skeletal muscle membrane. It can be inherited either as an autosomal dominant (Thomsen's myotonia) or an autosomal recessive (Becker's myotonia) trait. Both types are characterised by myotonia (muscle stiffness) and muscular hypertrophy, and are caused by mutations
C, Sun +4 more
openaire +2 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 +5 more
openaire +2 more sources
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 +9 more
doaj +1 more source
Splicing of human chloride channel 1
Biochemistry and Biophysics Reports, 2016 Expression of chloride channel 1 (CLCN1/ClC-1) in skeletal muscle is driven by alternative splicing, a process regulated in part by RNA-binding protein families MBNL and CELF.
Takumi Nakamura +6 more
doaj +1 more source
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 +2 more
doaj +1 more source
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 +10 more
doaj +1 more source
Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene
The Turkish Journal of Pediatrics, 2020 Background and Objectives. Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease).
Nezir Özgün, Hasan Taşlıdere
doaj +1 more source
Frontiers in Neurology, 2022 Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC).
Serena Pagliarani +5 more
doaj +1 more source