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Article

Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.

Neuromuscular disorders : NMD - 1 Jul 2020

Al-Muhaizea Mohammad A, AlQuait Laila, AlRasheed Afnan, AlHarbi Shoug, Albader Anoud Abdulmalik, AlMass Rawan, Albakheet Albandary, Alhumaidan Abdullah, AlRasheed Maha M, Colak Dilek, Kaya Namik

Abstract excerpt

Congenital myasthenic syndrome comprises several genetic disorders that impair neuromuscular junction transmission. Causative mutations occur in at least 30 genes, approximately 6-8% of which are presynaptic. One such gene, VAMP1, encodes vesicle-associated membrane protein-1, which is crucial in the formation and fusion of synaptic vesicles with the presynaptic membrane at the neuromuscular junction. VAMP1...

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PMID: 32616363
DOI: 10.1016/j.nmd.2020.04.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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