Results 31 to 40 of about 12,609 (254)

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

Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy

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, Silvia Bonanno, Concetta Altamura, Jean-François Desaphy   +3 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

Laparoscopic cholecystectomy under total intravenous anaesthesia in a patient with myotonic dystrophy type 1 (Steinert’s disease) – a case report [PDF]

Folia Medica, 2022
Myotonic dystrophy type 1 or Steinert’s disease is an autosomal dominant multisystem disease which is characterized by consistent contracture of muscle following stimulation (myotonia).
Georgios Karras, Evangelia Nikouli, Bulent Kiamiloglou   +2 more
doaj   +3 more sources

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

Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia

SAGE Open Medical Case Reports, 2017
Objectives: A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. Methods: Case report.
Josef Finsterer, Georg Safoschnik, Martina Witsch-Baumgartner   +2 more
doaj   +1 more source

Cannabidiol Selectively Binds to the Voltage-Gated Sodium Channel Na_v1.4 in Its Slow-Inactivated State and Inhibits Sodium Current

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, Pi-Chen Lin, Jian-Lin Chen, Ming-Jen Lee   +3 more
doaj   +1 more source

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

Scientific Reports, 2019
The sarcolemmal voltage gated sodium channel NaV1.4 conducts the key depolarizing current that drives the upstroke of the skeletal muscle action potential.
M. Thor, Vinojini Vivekanandam, M. Sampedro-Castañeda, S. Veronica Tan, K. Suetterlin, R. Sud, S. Durran, S. Schorge, D. Kullmann, Michael G. Hanna, E. Matthews, R. Männikkö   +11 more
semanticscholar   +1 more source