Results 21 to 30 of about 2,290 (109)

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

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

Myotonia

, 2018
Myotonia is a slow relaxation phase after normal contraction. Patients report dystonia as muscle stiffness and sometimes pain. They usually adapt to it well. Falls due to myotonia may lead to accidents.
Aziz Shaibani
core   +1 more source

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

Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey

BMC Neurology
Background Prominent symptoms in myotonic dystrophy (DM) negatively affect the hands/arms (DM1), legs (DM2), or relate to fatigue. Myotonia is experienced by 90% of people with DM1 and is generally the DM hallmark.
Valeria A. Sansone, Utkarsh J. Dang, Linda Edmondson, Jordi Díaz-Manera, Nikoletta Nikolenko, Emma-Jayne Ashley, Guillaume Bassez, Cynthia Gagnon, Federica Montagnese, Homira Osman, Céline Tard, Ulrike Nowak, Christopher Turner, Alla Zozulya-Weidenfeller   +13 more
doaj   +1 more source

Novel chloride channel mutations leading to mild myotonia among Chinese

, 2008
We describe two Chinese families with a mild form of the myotonia congenita due to novel chloride channel (ClCN1) mutations. In one case, heterozygous I553F and H555N mutations were found.
Hunziker, W., Huifang, Shang, Sigel, Erwin, Lim, Erle C H, Ong, B.K.C., Beguin, Pascal, Baur, R., Seet, R.C.S., Baur, Roland, Eng, Chew Soh, Burgunder, Jean-Marc, Seet, Raymond C S, Eng, C.S., Ong, Benjamin K C, Lim, E.C.H., Hunziker, Walter, Beguin, P., Sigel, E., Burgunder, J.-M.   +18 more
core   +1 more source

Contributors to Pathologic Depolarization in Myotonia Congenita [PDF]

, 2023
Myotonia congenita is an inherited skeletal muscle disorder caused by loss-of-function mutation in the CLCN1 gene. This gene encodes the ClC-1 chloride channel, which is almost exclusively expressed in skeletal muscle where it acts to stabilize the ...
Myers, Jessica Hope
core   +2 more sources

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

Frontiers in Neurology, 2020
Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic ...
Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi   +31 more
doaj   +1 more source

Exon 17 skipping in CLCN1 leads to recessive myotonia congenita

, 2004
Mutations in CLCN1, the gene encoding the ClC-1 chloride channel in skeletal muscle, lead to myotonia congenita. The effects on the intramembranous channel forming domains have been investigated more than that at the intracellular C-terminus.
Schaerer, Martin, Lie Chen, Sigel, Erwin, Lu, Zen H, Gallati, Sabina, Sabina Gallati, Kappeler, Lilianne, Erwin Sigel, Chen, Lie, Franziska Joncourt, Joachim Weis, Fritschi, Juerg, Burgunder, Jean-Marc, Lilianne Kappeler, Weis, Joachim, Jean‐Marc Burgunder, Lang, Doris, Joncourt, Franziska, Martin Schaerer, Doris Lang, Zen H. Lu, Juerg Fritschi   +21 more
core   +1 more source

Equine muscular dystrophy with myotonia

, 2001
Objectives: To describe a case of equine muscular dystrophy with myotonia. Methods: A 5-year-old horse presented with hypertrophy and delayed relaxation of the muscles of the hindlimbs from age 2 months.
Strong, P. N., Liguori, R., P Montagna, G Gandini, Monari, L., Riva, R., R Riva, Cipone, M., Montagna, P., Gandini, G., R Liguori, L Monari, P.N Strong, M Cipone, Di Stasi, V., V Di Stasi, Cipone M., Riva R., Liguori R., Montagna P., Di Stasi V., Monari L., Strong P. N, Gandini G.   +23 more
core   +2 more sources