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β2-adrenoceptor activation enhances pyridostigmine efficacy in presynaptic congenital myasthenic syndrome

2026-05-12

Abstract excerpt

<b>Background and Purpose</b> Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission characterized by lifelong muscle weakness and fatigability. Variants in <i>SLC18A3</i>, encoding the vesicular acetylcholine transporter (VAChT), cause a severe presynaptic CMS with limited treatment options. Acetylcholinesterase inhibitors such as pyridostigmine are first-line therapy but ofte...

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Literature Corpus work
05e42a64-1510-5f13-ae05-6f048d3bc71e
DOI
10.22541/authorea.15003132/v1
Open publication

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