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Medicina, 1981 Some of the next articles are maybe not open access.
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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
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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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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
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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
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Science, 1962
Congenital myotonia, similar to that which has been reported in humans and in goats, is here reported for the first time in another species. Evidence is given to show (i) that the myotonic phenomenon is present despite complete block of neuromuscular transmission; (ii) prior to injection of curare, synchronous activity of muscle fibers may result not ...
S, STEINBERG, S, BOTELHO
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Congenital myotonia, similar to that which has been reported in humans and in goats, is here reported for the first time in another species. Evidence is given to show (i) that the myotonic phenomenon is present despite complete block of neuromuscular transmission; (ii) prior to injection of curare, synchronous activity of muscle fibers may result not ...
S, STEINBERG, S, BOTELHO
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Archives of Neurology, 1967
MYOTONIA, the denominating characteristic of three genetically determined diseases of muscle (myotonia congenita, myotonia dystrophica, and paramyotonia), and dystrophy of muscle fibers, a feature of one of these diseases (myotonia dystrophica), remain obscure.
F J, Samaha +3 more
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MYOTONIA, the denominating characteristic of three genetically determined diseases of muscle (myotonia congenita, myotonia dystrophica, and paramyotonia), and dystrophy of muscle fibers, a feature of one of these diseases (myotonia dystrophica), remain obscure.
F J, Samaha +3 more
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