Results 31 to 40 of about 10,373 (189)
Arquivos de Neuro-Psiquiatria, 1995 We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans.
Umbertina C. Reed +6 more
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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 +11 more
core +1 more source
A CASE OF “MYOTONIA CONGENITA” [PDF]
The Journal of Nervous and Mental Disease, 1897 n ...
openaire +2 more sources
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 +6 more
doaj +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 +4 more
doaj +1 more source
Open-label trial of ranolazine for the treatment of myotonia congenita. [PDF]
Neurology, 2017 Objective: To determine open-label, pilot study whether ranolazine could improve signs and symptoms of myotonia and muscle stiffness in patients with myotonia congenita (MC). Methods: Thirteen participants were assessed at baseline and 2, 4, and 5 weeks.
Arnold WD +7 more
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 +26 more
core +2 more sources
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 +3 more
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