Results 31 to 40 of about 3,195 (191)
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
Identification of plant-derived alkaloids with therapeutic potential for myotonic dystrophy type I [PDF]
, 2016 Myotonic dystrophy type I (DM1) is a disabling neuromuscular disease with no causal treatment available. This disease is caused by expanded CTG trinucleotide repeats in the 3 UTR of the dystrophia myotonica protein kinase gene. On the RNA level, expanded
Erne, B. +9 more
core +1 more source
A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog. [PDF]
J Vet Diagn Invest, 2023 Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in the CLCN1 gene. We describe here a complex CLCN1 variant in a mixed-breed dog with clinical and electromyographic signs of HM. Blood samples from the myotonic dog, as well as from his male littermate and parents, were analyzed via ...
Chimenes ND +8 more
europepmc +4 more sources
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
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 +7 more
core +1 more source
Whole-exome analysis in osteosarcoma to identify a personalized therapy [PDF]
, 2017 Osteosarcoma is the most common pediatric primary non-hematopoietic bone tumor. Survival of these young patients is related to the response to chemotherapy and development of metastases.
Aretini, Paolo +13 more
core +1 more source
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
Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: A useful tool in myotonic dystrophy type 1 [PDF]
, 2015 Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in 3\u2019UTR of DMPK gene. This mutation causes accumulation of toxic RNA in nuclear foci leading to splicing misregulation of specific genes. In view of future
Cardani, Rosanna +9 more
core +3 more sources
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