Results 31 to 40 of about 3,329 (204)

Discovery and Treatment of Action Potential-Independent Myotonia in Hyperkalemic Periodic Paralysis. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Dupont C, Deardorff A, Nawaz M, Voss AA, Rich MM.   +4 more
europepmc   +2 more sources

Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos

Arquivos de Neuro-Psiquiatria, 1995
We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans.
Umbertina C. Reed, Suely K. Nagahashi Marie, Mario Wilson I. Brotto, Carlos Alberto Martinez, Paulo E. Marchiori, Aron Diament, José Antonio Levy   +6 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, Chen, Tsung-Yu, Hsieh, Hsin-Ying, Huang, Jing-Jia, Peng, Yi-Jheng, Tang, Chih-Yung, Wu, Chia-Ying, Wu, Hao-Han   +7 more
core   +1 more source

Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle. [PDF]

, 2016
Electrical membrane properties of skeletal muscle fibers have been thoroughly studied over the last five to six decades. This has shown that muscle fibers from a wide range of species, including fish, amphibians, reptiles, birds, and mammals, are all ...
Chen, Tsung-Yu, de Paoli, Frank Vincenzo, Nielsen, Ole Bækgaard, Pedersen, Thomas Holm, Riisager, Anders   +4 more
core   +1 more source

Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH [PDF]

, 1987
To study the mechanism of periodic paralysis, we investigated the properties of intact muscle fibers biopsied from a patient who had adynamia episodica hereditaria with electromyographic signs of myotonia.
Aickin, Becker, Bekény, Bradley, Bretag, Buchthal, Caldwell, Carson, Clausen, Drager, French, Gamstorp, Grafe, Grafe, Helweg-Larsen, Heuser, Hille, Hoff van't, Krull, Kwieciński, Kwieciński, Lehmann-Horn, Lehmann-Horn, Lehmann-Horn, Lewis, McArdle, McComas, Meulen van der, Ricker, Ricker, Riggs, Ruff, Rüdel, Rüdel, Stafstrom, Subramony, Sugimori, Thomas   +37 more
core   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Sodium and chloride channelopathies with myositis:Coincidence or connection? [PDF]

, 2011
Introduction: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown. Methods: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and
Arzel-Hezode, Becker, Bradley, Buruma, Colding-Jorgensen, Emery, Fialho, Fontaine, Fournier, George, Hilton-Jones, Links, Matthews, Miller, Nagamitsu, Plassart, Plassart, Ptacek, Ptacek, Rosenfeld, Tidball, Trip, Vicart   +22 more
core   +1 more source

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

Frontiers in Neurology, 2020
The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing.
Nathaniel Elia, Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon   +6 more
doaj   +1 more source

A case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenita

Нервно-мышечные болезни, 2016
Myotonia congenital (MC) is the most common form of the hereditary nondystrophic myotonias caused by mutations in the skeletal muscle chloride channel gene (CLCN1) which change the functional features of muscle fibers membrane.
S. A. Kurbatov, S. S. Nikitin, S. N. Illarioshkin, P. Gundorova, A. V. Polyakov   +4 more
doaj   +1 more source

CLC channel function and dysfunction in health and disease [PDF]

, 2014
CLC channels and transporters are expressed in most tissues and fulfill diverse functions. There are four human CLC channels, ClC-1, ClC-2, ClC-Ka and ClC-Kb, and five CLC transporters, ClC-3 through -7.
Christoph Fahlke, Gabriel Stölting, Martin Fischer   +2 more
core   +2 more sources