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Quoted phrase not found in phrase index: "Myasthenia, congenital, refractory to acetylcholinesterase inhibitors"
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A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors.
Triggs WJ, Beric A, Butler IJ, Roongta SM. Triggs WJ, et al. Muscle Nerve. 1992 Mar;15(3):267-72. doi: 10.1002/mus.880150302. Muscle Nerve. 1992. PMID: 1313543
We studied 4 siblings (3 men and 1 woman), ages 22 to 43 years, with congenital ptosis, external ophthalmoplegia, proximal muscle weakness and fatigability unresponsive to acetylcholinesterase (AChE) inhibitors. ...Edrophonium eliminated the decremental respo …
We studied 4 siblings (3 men and 1 woman), ages 22 to 43 years, with congenital ptosis, external ophthalmoplegia, proximal muscle wea …
Selective response to rituximab in a young child with MuSK-associated myasthenia gravis.
Govindarajan R, Iyadurai SJ, Connolly A, Zaidman C. Govindarajan R, et al. Neuromuscul Disord. 2015 Aug;25(8):651-2. doi: 10.1016/j.nmd.2015.03.014. Epub 2015 Apr 22. Neuromuscul Disord. 2015. PMID: 25998611
Acetylcholine receptor antibodies and genetic testing for congenital myasthenic syndrome were negative. Muscle specific tyrosine kinase antibodies were significantly elevated. Ophthalmoplegia and bulbar weakness were refractory to treatment with acetylchol …
Acetylcholine receptor antibodies and genetic testing for congenital myasthenic syndrome were negative. Muscle specific tyrosi …
Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors.
Tay CG, Fong CY, Li L, Ganesan V, Teh CM, Gan CS, Thong MK. Tay CG, et al. J Clin Neurosci. 2020 Feb;72:468-471. doi: 10.1016/j.jocn.2019.12.007. Epub 2019 Dec 10. J Clin Neurosci. 2020. PMID: 31831253
Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylcholine receptor (AChR) antibody. ...Both were treated as refractory autoimmune MG due to poor clinical response to acetylch …
Congenital myasthenic syndrome (CMS) is a heterogeneous group of inherited disorder which does not associate with anti-acetylc …