scholarly journals Congenital Myasthenic Syndromes - Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction

10.5772/28879 ◽  
2012 ◽  
Author(s):  
Kinji Ohno ◽  
Mikako Ito ◽  
Andrew G.
Keyword(s):  
Neuromuscular Junction ◽  
Congenital Defects ◽  
Congenital Myasthenic Syndromes ◽  
Molecular Bases ◽  
Myasthenic Syndromes

scholarly journals Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes

2010 ◽  
Vol 19 (9) ◽  
pp. 1726-1740 ◽  
Author(s):  
Juliane S. Müller ◽  
Catherine D. Jepson ◽  
Steven H. Laval ◽  
Kate Bushby ◽  
Volker Straub ◽  
...  
Keyword(s):  
Neuromuscular Junction ◽  
Slow Muscle ◽  
Zebrafish Model ◽  
Congenital Myasthenic Syndromes ◽  
Junction Formation ◽  
Myasthenic Syndromes

Neuromuscular Junction Disorders

2015 ◽  
Author(s):  
Anthony A Amato ◽  
Mohammad Kian Salajegheh
Keyword(s):  
Neuromuscular Junction ◽  
Myasthenia Gravis ◽  
Motor Nerve ◽  
Neuromuscular Disorders ◽  
Synaptic Cleft ◽  
Organophosphate Poisoning ◽  
Electric Currents ◽  
Repetitive Nerve Stimulation ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes

The three main components of the neuromuscular junction (NMJ) include the presynaptic region, the synaptic cleft, and the postsynaptic region. The NMJ acts as an interface between the motor nerve and muscle by converting the motor nerve electric currents into chemical signals and then back into electric currents in the muscle. This chapter reviews electrodiagnostic testing in NMJ disorders, including repetitive nerve stimulation and single-fiber electromyography. Myasthenia gravis, congenital myasthenic syndromes, Lambert-Eaton myasthenic syndrome, botulism, and organophosphate poisoning and other toxins are discussed, including epidemiology, etiology/genetics, pathogenesis, diagnosis, differential diagnosis, management, complications, and prognosis. Tables include an overview of neuromuscular disorders, drugs with adverse effects on the NMJ, common immunomodulatory agents used for treatment of myasthenia gravis, congenital myasthenic syndromes, and toxins and venoms. Figures illustrate the NMJ structure and function, structure of the presynaptic and postsynaptic regions, electrodiagnostic studies in NMJ disorders, and dysfunction of the NMJ in acetylcholine receptor myasthenia gravis. This chapter contains 5 highly rendered figures, 5 tables, 65 references, and 5 MCQs.

Congenital myasthenic syndromes and the neuromuscular junction

2014 ◽  
Vol 27 (5) ◽  
pp. 566-575 ◽  
Author(s):  
Pedro M. Rodríguez Cruz ◽  
Jacqueline Palace ◽  
David Beeson
Keyword(s):  
Neuromuscular Junction ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes

Congenital Myasthenic Syndromes and the Formation of the Neuromuscular Junction

2008 ◽  
Vol 1132 (1) ◽  
pp. 99-103 ◽  
Author(s):  
David Beeson ◽  
Richard Webster ◽  
Judith Cossins ◽  
Daniel Lashley ◽  
Hayley Spearman ◽  
...  
Keyword(s):  
Neuromuscular Junction ◽  
Congenital Myasthenic Syndromes ◽  
Myasthenic Syndromes
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