Results 21 to 30 of about 3,216 (202)
Myotonia congenita: novel mutations in CLCN1 gene [PDF]
Channels, 2015 Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms.
Xiao-Li, Liu +9 more
openaire +2 more sources
Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics. [PDF]
PLoS ONE, 2014 Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders.
Wei Cheng +4 more
doaj +1 more source
Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy. [PDF]
Eur J NeurolReassessment, including genetic testing, was performed in patients with a clinical diagnosis of hereditary polyneuropathy lacking genetic confirmation. A genetic or non‐genetic aetiology was identified in 44% of the patients. ABSTRACT Background Hereditary polyneuropathy is a disabling condition with a genetic aetiology.
Kodal LS, Duno M, Dysgaard T.
europepmc +2 more sources
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 +8 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. +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 +7 more
doaj +1 more source
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 +4 more sources
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
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