Results 31 to 40 of about 2,290 (109)
Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective? [PDF]
PLoS ONE, 2013 Mutations in the cytoplasmic tail (CT) of voltage gated sodium channels cause a spectrum of inherited diseases of cellular excitability, yet to date only one mutation in the CT of the human skeletal muscle voltage gated sodium channel (hNaV1.4F1705I) has
Subrata Biswas +3 more
doaj +1 more source
Biomedicines, 2021 Cannabidiol (CBD), one of the cannabinoids from the cannabis plant, can relieve the myotonia resulting from sodium channelopathy, which manifests as repetitive discharges of muscle membrane.
Chiung-Wei Huang +3 more
doaj +1 more source
Anesthetic management of a patient with sodium-channel myotonia: a case report
JA Clinical Reports, 2019 Background Sodium-channel myotonia (SCM) is a nondystrophic myotonia, characterized by pure myotonia without muscle weakness or paramyotonia. The prevalence of skeletal muscle channelopathies is approximately 1 in 100,000, and the prevalence of SCM is ...
Naohisa Matsumoto +4 more
doaj +1 more source
Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia
Diagnostics, 2021 Myotonia, i.e., delayed muscle relaxation in certain hereditary muscle disorders, can be assessed quantitatively using different techniques ranging from force measurements to electrodiagnostics.
Cornelius Kronlage +6 more
doaj +1 more source
Myotonia-causing mutations and the putative binding pocket of the 9-AC inhibitor.
, 2019 (a–d) Disease-causing and experimental missense mutations in ClC-1. Substitutions that invert (from depolarization to hyperpolarization activated) or shift the voltage dependence are shown in pink (located to the extracellular side) and blue ...
Julie Winkel Missel (6634973) +15 more
core +1 more source
Novel Mechanisms Underlying Warm-up and Percussion Myotonia in Myotonia Congenita
, 2017 Patients with myotonia congenita have muscle hyperexcitability due to loss-of-function mutations in the ClC-1 chloride channel in skeletal muscle, which causes spontaneous firing of muscle action potentials (myotonia), producing muscle stiffness ...
Novak, Kevin Richard +1 more
core +2 more sources
Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy
Nature CommunicationsA cardinal sign of myotonic dystrophy type 1 (DM1) is myotonia, slow muscle relaxation after voluntary contraction. Myotonia results from mis-regulated splicing of chloride channel 1 (ClC-1), leading to loss of channel function and runs of involuntary ...
Matthew T. Sipple +8 more
doaj +1 more source
The Turkish Journal of Pediatrics, 2019 Schwartz Jampel syndrome was first described in 1962. It is an autosomal recessive disease with generalized myotonic myopathy and skeletal dysplasia. A mutation in the HSPG2 gene occurs. Approximately 150 cases have been reported in literature. A 4-year-
Gürkan Gürbüz, Hatice Mutlu Albayrak
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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 +1 more source
Quantitative myotonia assessment: an experimental protocol [PDF]
, 2000 Severe clinical myotonia can be physically disabling and socially imparing but as yet there is no standardized treatment regimen. The aim of our study is to present a protocol to measure myotonia using quantitative muscle assessment measures.
J. Salvucci +3 more
core +2 more sources