Abnormal neuromuscular transmission in an infantile myasthenic syndrome
نویسندگان
چکیده
منابع مشابه
Abnormal Neuromuscdar Transmission in an Idantde Myasthenic Syndrome
A term infant required intubation for respiratory depression. Examination revealed hypotonia and areflexia with intact extraocular movements. Electrodiagnostic studies demonstrated defective neuromuscular transmission characterized by borderline low motor evoked amplitudes, profound decremental responses at all stimulation rates, and moderate facilitation (50 to 740%) 15 seconds after 5 seconds...
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In patients with myasthenia gravis neuromuscular transmission has been tested in individual hypothenar and thenar motor units using trains of near threshold electrical stimuli delivered to the motor nerve. The most important observations included: (1) the proportion of motor units with pathological decrements varied from 0 to 90%, (2) the decrements in surface voltage were frequently much more ...
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The slow-channel myasthenic syndrome (SCS) is a hereditary disorder of the acetylcholine receptor (AChR) of the neuromuscular junction (NMJ) that leads to prolonged AChR channel opening, Ca(2+) overload, and degeneration of the NMJ. We used an SCS transgenic mouse model to investigate the role of the calcium-activated protease calpain in the pathogenesis of synaptic dysfunction in SCS. Cleavage...
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Congenital myasthenic syndromes (CMS) form a heterogeneous group of rare diseases characterized by fatigable muscle weakness. They are genetically-inherited and caused by defective synaptic transmission at the cholinergic neuromuscular junction (NMJ). The number of genes known to cause CMS when mutated is currently 30, and the relationship between fatigable muscle weakness and defective functio...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 1984
ISSN: 0364-5134,1531-8249
DOI: 10.1002/ana.410160107