Results 21 to 30 of about 11,146 (222)

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

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

Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation

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, Kerstin Hoppe, Tina Sartorius, Sunisa Chaiklieng, Sunisa Chaiklieng, Georg Wietzorrek, Peter Ruth, Karin Jurkat-Rott, Scott Wearing, Scott Wearing, Frank Lehmann-Horn, Werner Klingler, Werner Klingler, Werner Klingler, Werner Klingler   +14 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

Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report

BMC Neurology, 2019
Background Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs.
Takanori Hata, Takamura Nagasaka, Kishin Koh, Mai Tsuchiya, Yuta Ichinose, Haitian Nan, Kazumasa Shindo, Yoshihisa Takiyama   +7 more
doaj   +1 more source

Cromakalim (BRL 34915) restores in vitro the membrane potential of depolarized human skeletal muscle fibres [PDF]

, 1989
The purpose of the present study was to analyze the effects of cromakalim (BRL 34915), a potent drug from a new class of drugs characterized as K+ channel openers, on the electrical activity of human skeletal muscle.
Grafe, Peter, Lehmann-Horn, Frank, Spuler, A.   +2 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

Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility [PDF]

, 2006
Although cataract is a characteristic feature of myotonic dystrophy type 1 (DM1), little is known of the underlying mechanisms. We generated four lens epithelial cell lines derived from DM1 cataracts and two from age-matched, non-DM cataracts. Small-pool
Abe, Alan R. Prescott, Anvret, Behrens, Benders, Collison, Darren G. Monckton, Delamere, Diecke, Duke-Elder, Duncan, Dunne, Fleming, George Duncan, Gomes-Pereira, Gomes-Pereira, Harper, Harris, Hull, James, Jeremy D. Rhodes, Jin, John P. McAbney, Khajavi, Khan, Kimura, Klesert, Lauf, Monckton, O'Cochlain, Pham, Remillard, Renaud, Rhodes, Sanderson, Sarkar, Stocker, Sun, Tapscott, Vergara, Winchester   +40 more
core   +2 more sources

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