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Expert Rev Clin Immunol
October 2019
Department of Neurology, University of Alabama, Birmingham , AL , USA.
: The present status of amifampridine (AFP) for the treatment of Lambert-Eaton myasthenic syndrome (LEMS) is reviewed. : All relevant literature identified through a PubMed search under treatment of LEMS, aminopyridine, and amifampridine are reviewed. An expert opinion on AFP was formulated.
View Article and Find Full Text PDFNeth J Med
July 2016
Department of Intensive Care, OLVG, Amsterdam, the Netherlands.
Neuromuscul Disord
June 2004
Department of Clinical Neurology, Radcliffe Infirmary, Oxford, UK.
We contrast the phenotypes associated with hereditary acetylcholine receptor deficiency arising from mutations in either the acetylcholine receptor epsilon subunit or the endplate acetylcholine receptor clustering protein rapsyn. Mutational screening was performed by amplification of promoter and coding regions by PCR and direct DNA sequencing. We identified mutations in 37 acetylcholine receptor deficiency patients; 18 had acetylcholine receptor-epsilon mutations, 19 had rapsyn mutations.
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