Results 11 to 20 of about 2,290 (109)

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology
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).
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
doaj   +2 more sources

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.
Ballanyi, Klaus, Lehmann-Horn, Frank, Gerald Küther, Peter Grafe, Klaus Ballanyi, Rüdel, Reinhardt, Kenneth Ricker, Grafe, Peter, Frank Lehmann‐Horn, Küther, Gerald, Ricker, Kenneth, Reinhardt Rüdel   +11 more
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Anesthesia Experience in a Patient with Myotonia Congenita [PDF]

, 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 ...
Veysel Erden, Yeşim Cokay Abut, Kübra Bolat, Seher Köse, Serkan Şimşek, Şenay Kırgezen   +5 more
core   +1 more source

Drug treatment for myotonia. [PDF]

, 2006
Contains fulltext : 51361.pdf (Publisher’s version ) (Open Access)BACKGROUND: Abnormal delayed relaxation of skeletal muscles, known as myotonia, can cause disability in myotonic disorders.
Engelen, B.G.M. van, Drost, G., Trip, J., Faber, C.G.   +3 more
core   +2 more sources

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review

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, Mao Li, Zhenfu Wang, Fei Yang, Hongfen Wang, Xiujuan Bai, Bo Sun, Siyu Chen, Xusheng Huang   +8 more
doaj   +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, Ioannis Karakis, Taylor B. Harrison   +2 more
doaj   +1 more source

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

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, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin   +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, Kirsten Denman, Chris DuPont, Ahmed A Hawash, Kevin R Novak, Andrew Koesters, Manfred Grabner, Anamika Dayal, Andrew A Voss, Mark M Rich   +9 more
doaj   +1 more source

TRPV4 Antagonism Prevents Mechanically Induced Myotonia.

, 2020
OBJECTIVE: Myotonia is caused by involuntary firing of skeletal muscle action potentials and causes debilitating stiffness. Current treatments are insufficiently efficacious and associated with side effects.
Cathleen M. Lutz, Sumner, Charlotte J., Charlotte J. Sumner, Novak, Kevin, David R. Ladle, Kirsten Denman, Kevin Novak, Laurent Bogdanik, Brown, Nicklaus L, Jeremy M. Sullivan, Bogdanik, Laurent, Sullivan, Jeremy M., Brown, Nicklaus L., Ladle, David R., Voss, Andrew A., Nicklaus L. Brown, Lutz, Cathleen, Myers, Jessica H., Lutz, Cathleen M., A Voss, Andrew, Rich, Mark M, Walker, Phillip V, Rich, Mark M., Sullivan, Jeremy M, Denman, Kirsten, Dupont, Chris, Bogdanik, Laurent P, Walker, Phillip V., II, Myers, Jessica H, Sumner, Charlotte J, Chris Dupont, Ladle, David R, Phillip V. Walker, Jessica H. Myers, Denman, Kristen, Mark M. Rich, Andrew A. Voss   +36 more
core   +1 more source

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

Frontiers in Neurology, 2020
Objective: The aim of our study was to evaluate the long-term efficacy and safety of mexiletine in 112 patients affected by genetically confirmed non-dystrophic myotonias. The study was performed at the Neurophysiologic Division of Fondazione Policlinico
Anna Modoni, Adele D'Amico, Guido Primiano, Fiorentino Capozzoli, Jean-François Desaphy, Mauro Lo Monaco, Mauro Lo Monaco   +6 more
doaj   +1 more source