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A CASE OF SLOW CHANNEL CONGENTAL MYASTHENIC SYNDROME

MOSES P MOORTHY

Abstract


Congenital myasthenic syndrome are  heterogenous inherited disorder characterized by impaired neuromuscular transmission. All are inherited as autosomal recessive manner except slow channel congenital myasthenic syndrome, which is inherited as autosomal dominant manner. It may manifest upto 5th to 6th decade. Here we are reporting a rare case of slow channel congenital myasthenic syndrome.

 


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References


José David Otero-Cruz, Carlos Alberto Báez-Pagán et al, Decoding Pathogenesis of Slow-Channel Congenital Myasthenic Syndromes using Recombinant Expression and Mice Models. PMC 2010 Aug 27. Published in final edited form as: P R Health Sci J. 2010 Mar; 29(1): 4–17.

Harper CM, Engel AG, Fukudome I, et al. Treatment of slow channel congenital myasthenic syndrome with fluoxetine. Neurology 2003;60:1710-1713. Margherita Milone, Hai-Long Wang et al, Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor a Subunit. Muscle Research Laboratory,

Department of Neurology, and 2Receptor Biology Laboratory, Department of Physiology and Biophysics, Mayo Foundation, Rochester, Minnesota 55905. The Journal of Neuroscience, August 1, 1997, 17(15):5651–5665

Sarah Finlayson, Jennifer Spillane et al, Slow channel congenital myasthenic syndrome responsive to a combination of fluoxetine and salbutamol., Muscle & Nerve, Volume 47, Issue 2, pages 279–282, February 2013.

Andrew G. Engel et al, Myasthenic Syndrome, Slow-Channel Congenital, Encyclopedia of Molecular Mechanisms of Disease 2009, pp 1395-1396.


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