Results 21 to 30 of about 2,226 (158)
A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Iranian Journal of Medical Sciences, 2016 Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene.
Mohammad Miryounesi +2 more
doaj +2 more sources
A novel mutation in the CLCN1 gene causing autosomal recessive myotonia congenita in siblings
Annals of Indian Academy of Neurology, 2021 Kamalesh Chakravarty +2 more
doaj +3 more sources
Cells, 2021 Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe a family with members diagnosed with Thomsen’s disease. One novel mutation
Oscar Brenes +10 more
doaj +1 more source
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 +16 more
doaj +1 more source
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
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
Novel CLCN1 mutations with unique clinical and electrophysiological consequences [PDF]
Brain, 2002 Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically screened all 23 exons of the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients. Six novel mutations were discovered: five were missense (S132C, L283F, T310M, F428S and T550M) found in ...
WU FF +17 more
openaire +3 more sources
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