Results 31 to 40 of about 2,450 (192)

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
core   +1 more source

MYOTONIA CONGENITA [PDF]

Journal of the American Medical Association, 1915
n ...
openaire   +2 more sources

MYOTONIA CONGENITA [PDF]

The Journal of Nervous and Mental Disease, 1917
n ...
openaire   +2 more sources

A CASE OF “MYOTONIA CONGENITA” [PDF]

The Journal of Nervous and Mental Disease, 1897
n ...
openaire   +2 more sources

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

Efficacy of Retigabine in Treating Weakness in a Mouse Model of Hypokalemic Periodic Paralysis. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Hypokalemic periodic paralysis (HypoKPP) is an ion channelopathy causing episodic skeletal muscle weakness triggered by hypokalemia. Reduced inward rectifier K+ (Kir) channel activity contributes to membrane depolarization and paralysis, suggesting that pharmacologic activation of muscle K+ channels may restore excitability ...
Denman K, Rich MM.
europepmc   +2 more sources

Chloride channels in myotonia congenita assessed by velocity recovery cycles [PDF]

, 2014
Introduction: Myotonia congenita (MC) is caused by congenital defects in the muscle chloride channel CLC-1. This study used muscle velocity recovery cycles (MVRCs) to investigate how membrane function is affected.
Werner J Z'Graggen, Rayan, DR, Z'graggen, WJ, Bostock, H, DELPHINE Boërio, Michael G. Hanna, Bostock, Hugh, Norwood, Fiona, Dipa Raja Rayan, Fiona Norwood, Rayan, Dipa Raja, Ruddy, Deborah, Z'Graggen, Werner Josef, Boërio, Delphine, S. Veronica Tan, Hanna, MG, Howard, R., Tan, S. Veronica, Tan, SV, Ruddy, D, Deborah Ruddy, Hanna, Michael G., Boërio, D, Norwood, F, Howard, R, Hugh Bostock, R. Howard   +26 more
core   +1 more source

Anesthetic management of a patient with sodium-channel myotonia: a case report

JA Clinical Reports, 2019
Background Sodium-channel myotonia (SCM) is a nondystrophic myotonia, characterized by pure myotonia without muscle weakness or paramyotonia. The prevalence of skeletal muscle channelopathies is approximately 1 in 100,000, and the prevalence of SCM is ...
Naohisa Matsumoto, Rei Nishimoto, Yoshikazu Matsuoka, Yoshimasa Takeda, Hiroshi Morimatsu   +4 more
doaj   +1 more source

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

The Application of Clinical Genetics, 2021
Jorge Andres Olave-Rodriguez,1 Francisco Javier Bonilla-Escobar,2– 4 Estephania Candelo,5,6 Lisa Ximena Rodriguez-Rojas1,7 1Universidad Icesi, Faculty of Health Sciences, Cali, Colombia; 2Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO ...
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX   +3 more
doaj  

Malignant Hyperthermia in Sweden: Clinical Presentations and Genetic Findings

Acta Anaesthesiologica Scandinavica, Volume 70, Issue 6, July 2026.
ABSTRACT Introduction Malignant hyperthermia (MH) is a pharmacogenetic, hypermetabolic and potentially lethal reaction to potent volatile anaesthetics and the muscle relaxant succinylcholine. To improve the understanding of MH, the aim of this retrospective study was to describe the Swedish cohort with respect to clinical manifestations, demographics ...
Anna Hellblom, Maria Soller, Carolina Samuelsson   +2 more
wiley   +1 more source