Results 11 to 20 of about 6,556 (183)
Cells, 2021 Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare genetic disorders caused by mutations in genes encoding ion channel subunits in the skeletal muscle mainly characterized by myotonia or periodic paralysis, potentially ...
Lorenzo Maggi +3 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
Frontiers in Neurology, 2020 The voltage-dependent ClC-1 chloride channel, whose open probability increases with membrane potential depolarization, belongs to the superfamily of CLC channels/transporters. ClC-1 is almost exclusively expressed in skeletal muscles and is essential for
Chung-Jiuan Jeng +10 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2021 Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrate a novel one.
Kevin Jehasse +7 more
doaj +1 more source
The mechanism underlying transient weakness in myotonia congenita
eLife, 2021 In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We performed intracellular recordings from
Jessica H Myers +9 more
doaj +1 more source
National Journal of Neurology, 2023 Dystrophic myotonia type 1 (DM1) is a genetic neuromuscular disease, that affects several body systems. The clinical phenotype of patients with DM1 is highly variable, limiting early diagnosis and treatment. In the present study, we reported a 45-year-old female patient with DM1 with dyspnea as one of the prominent clinical manifestations, reviewed her
R.K. Shiraliyeva +2 more
openaire +1 more source
The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis
Case Reports in Neurological Medicine, 2015 Electrical myotonia is known to occur in a number of inherited and acquired disorders including myotonic dystrophies, channelopathies, and metabolic, toxic, and inflammatory myopathies.
Marcus Magnussen +2 more
doaj +1 more source
Frontiers in Physiology, 2020 Reduced Cl− conductance causes inhibited muscle relaxation after forceful voluntary contraction due to muscle membrane hyperexcitability. This represents the pathomechanism of myotonia congenita.
Kerstin Hoppe +14 more
doaj +1 more source