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Posterior fossa arachnoid cysts in multiple system atrophy. [PDF]
IBRO Neurosci RepBlazek Ramsay AM +3 more
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Phenotypic variability in myotonia congenita
Muscle and Nerve, 2005AbstractMyotonia congenita is a hereditary chloride channel disorder characterized by delayed relaxation of skeletal muscle (myotonia). It is caused by mutations in the skeletal muscle chloride channel gene CLCN1 on chromosome 7. The phenotypic spectrum of myotonia congenita ranges from mild myotonia disclosed only by clinical examination to severe and
exaly +3 more sources
Advances in genetics, 2009
Myotonia is a symptom of many different acquired and genetic muscular conditions that impair the relaxation phase of muscular contraction. Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle ...
Christoph, Lossin, Alfred L, George
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Myotonia is a symptom of many different acquired and genetic muscular conditions that impair the relaxation phase of muscular contraction. Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, the gene coding for the main skeletal muscle ...
Christoph, Lossin, Alfred L, George
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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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American Journal of Psychiatry, 1962
This is presumed to be the first report of ECT successfully administered in a case of myotonia congenita, with and then without succinylcholine.
B, RIOUX, T, EVANGELISTA, G, ICENOGLE
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This is presumed to be the first report of ECT successfully administered in a case of myotonia congenita, with and then without succinylcholine.
B, RIOUX, T, EVANGELISTA, G, ICENOGLE
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Acetazolamide‐responsive myotonia congenita
Neurology, 1987We have studied 14 patients from a kindred with an autosomal dominant form of myotonia, with features differing from most cases of autosomal dominant or recessive myotonia congenita. All patients had painful muscle stiffness that was provoked by fasting and oral potassium administration and was relieved by carbohydrate-containing foods. Muscle biopsies
R G, Trudell, K K, Kaiser, R C, Griggs
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Myxedema, Pseudomyotonia, and Myotonia Congenita
Archives of Internal Medicine, 1958For the student of neuromuscular disorders, the thyroid gland poses several unsolved problems. Thus, hyperthyroidism has been shown to be associated with myopathy and ophthalmoplegia and may be related in some manner to myasthenia gravis and periodic paralysis.1Similarly, the concurrence of hypothyroidism and muscle dysfunction has been noted ...
L W, JARCHO, F H, TYLER
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Muscle pathology of myotonia congenita
Journal of the Neurological Sciences, 1976We have investigated the muscle biopsies of 8 patients with myotonia congenita. There were 2 families with autosomal recessive inheritance (5 cases), 1 with autosomal dominant inheritance, and 2 sporadic cases. Mild abnormalities were seen with routine pathological preparations which were nondiagnostic.
J, Crews, K K, Kaiser, M H, Brooke
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