Treatment of myotonia congenita with retigabine in mice. [PDF]
Exp Neurol, 2019 Patients with myotonia congenita suffer from muscle stiffness caused by muscle hyperexcitability. Although loss-of-function mutations in the ClC-1 muscle chloride channel have been known for 25 years to cause myotonia congenita, this discovery has led to little progress on development of therapy.
Dupont C +4 more
europepmc +8 more sources
Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype [PDF]
Frontiers in EndocrinologyBackgroundThe presence of multiple rare Mendelian disorders in a single patient may mask clinical recognition when phenotypes overlap. We describe a patient with longstanding myotonia congenita due to a CLCN1 variant in whom an incidental discovery of ...
Noha N. Mukhtar +6 more
doaj +2 more sources
Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. [PDF]
PLoS ONE, 2013 Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl(-)) channel CLC-1. Myotonia congenita can be inherited in an autosomal recessive (Becker type) or dominant (Thomsen type) fashion.
Ting-Ting Lee +7 more
doaj +3 more sources
Carbamazepine treatment of myotonia congenita in a cat [PDF]
Journal of Feline Medicine and Surgery Open ReportsCase summary A 2-year-old female intact domestic shorthair cat was referred to the neurology service at the Foster Hospital for Small Animals as a result of lifelong weakness, seizure-like episodes after excitement, muscle spasms, stiffness of the limbs ...
Genesis V Lopez Bonilla +3 more
doaj +2 more sources
Anesthesia Experience in a Patient with Myotonia Congenita [PDF]
Bagcilar Medical Bulletin, 2019 Myotonia congenita (MC) was first described as a skeletal muscle disorder by Thomsen in 1876. As a result of the mutation of the chloride channel gene (CLCN1), which is on the 17th chromosome, patients suffer from muscle contractility and fatigue ...
Yeşim Cokay Abut +5 more
doaj +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 +2 more sources
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita [PDF]
Frontiers in GeneticsMyotonia 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.
Sabrina Lucchiari +10 more
doaj +2 more sources
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children. [PDF]
J Neuromuscul Dis, 2023 BACKGROUND: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle.
Öz Tunçer G +15 more
europepmc +3 more sources
A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401 + 1G > A) in CLCN1 gene of a Chinese Han patient [PDF]
BMC Neurology, 2018 Background Autosomal recessive Myotonia congenita (Becker’s disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to ...
Jing Miao +5 more
doaj +2 more sources
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation. [PDF]
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 +2 more sources