Results 171 to 180 of about 11,146 (222)
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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
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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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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The inherited myotonias are a complex group of diseases caused by variations in genes that encode or modulate the expression of ion channels that regulate muscle excitability. These variations alter muscle membrane excitability allowing mild depolarization, causing myotonic discharges.
Karen, Suetterlin +2 more
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Karen, Suetterlin +2 more
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2010
Abstract Myotonia is defined at an electrical level as repetitive discharge of the muscle fibre membrane after initial activation, which occurs due to dysfunction of the membrane’s ion channels, most commonly the chloride channel, less commonly the sodium channel.
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Abstract Myotonia is defined at an electrical level as repetitive discharge of the muscle fibre membrane after initial activation, which occurs due to dysfunction of the membrane’s ion channels, most commonly the chloride channel, less commonly the sodium channel.
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Myotonia Congenita with “Delayed Myotonia.”
Proceedings of the Royal Society of Medicine, 1960V, DUBOWITZ, D, LAWSON
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Abstract Myotonia as a failure of a muscle to relax after a forceful contraction is an important sign of a group of myopathies that are usually inherited. Failure to relax hand grip after a handshake is the first diagnostic alert. In addition to action myotonia, percussion usually induces myotonia of the percussed muscles (tongue, wrist ...
Mohammad Kian Salajegheh +1 more
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Mohammad Kian Salajegheh +1 more
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