Results 191 to 200 of about 12,609 (254)
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
, 2017 Frank Lehmann‐Horn +9 more
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Brody disease: when myotonia is not myotonia
Practical Neurology, 2019A 56-year-old man presented with painless impairment of muscle relaxation on vigorous contraction (eg, eyelid closure, hand grip, running). There were no episodes of paralysis, symptom progression, weakness or extramuscular symptoms. Five of his fifteen siblings had similar complaints. His serum creatine kinase was normal.
Luís Braz +4 more
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Treatment of myotonia congenita with retigabine in mice
Experimental Neurology, 2019 Mark M Rich
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2015
Abstract This is a chapter on Myotonia from the Lower Motor Neuron / Muscle disorders section of A Manual of Neurological Signs. Most of the chapters contain a description of the sign, associated signs, and cases, supported by clinical videos and figures.
John G. Morris, Padraic J. Grattan-Smith
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Abstract This is a chapter on Myotonia from the Lower Motor Neuron / Muscle disorders section of A Manual of Neurological Signs. Most of the chapters contain a description of the sign, associated signs, and cases, supported by clinical videos and figures.
John G. Morris, Padraic J. Grattan-Smith
+5 more sources
Inhibiting persistent inward sodium currents prevents myotonia
Annals of Neurology, 2017 Patients with myotonia congenita have muscle hyperexcitability due to loss‐of‐function mutations in the ClC‐1 chloride channel in skeletal muscle, which causes involuntary firing of muscle action potentials (myotonia), producing muscle stiffness.
Andrew A Voss, Mark M Rich
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Scientific Reports, 2018 Dominantly inherited channelopathies of the skeletal muscle voltage-gated sodium channel NaV1.4 include hypokalaemic and hyperkalaemic periodic paralysis (hypoPP and hyperPP) and myotonia.
Sushan Luo, Jian Sun, Jie Song
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Seminars in Neurology, 1991
There are two types of MC, autosomal dominant and autosomal recessive (also called recessive generalized myotonia), both with the predominant clinical feature of diffuse myotonia. Recessive MC patients have more weakness than patients with dominant MC. MC patients of both types have a normal life span. Ongoing genetic studies have not as yet identified
L, Gutmann, L H, Phillips
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There are two types of MC, autosomal dominant and autosomal recessive (also called recessive generalized myotonia), both with the predominant clinical feature of diffuse myotonia. Recessive MC patients have more weakness than patients with dominant MC. MC patients of both types have a normal life span. Ongoing genetic studies have not as yet identified
L, Gutmann, L H, Phillips
openaire +2 more sources
Sodium channel slow inactivation as a therapeutic target for myotonia congenita
Annals of Neurology, 2015 Mark M Rich
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Archives of Neurology, 1990
Autosomal-dominantly inherited nondystrophic myotonic disorders are an interesting group of muscle diseases that provide considerable opportunity for future molecular genetic studies to identify the genes responsible for specific membrane functions. A family with such a myotonic disorder is described with features that are distinctly different from ...
K, Ricker, F, Lehmann-Horn, R T, Moxley
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Autosomal-dominantly inherited nondystrophic myotonic disorders are an interesting group of muscle diseases that provide considerable opportunity for future molecular genetic studies to identify the genes responsible for specific membrane functions. A family with such a myotonic disorder is described with features that are distinctly different from ...
K, Ricker, F, Lehmann-Horn, R T, Moxley
openaire +2 more sources