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Article

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.

Neuromuscular disorders : NMD - 1 Jan 2021

Rodríguez Cruz Pedro M, Hughes Imelda, Manzur Adnan, Munot Pinki, Ramdas Sithara, Wright Ronnie, Breen Catherine, Pitt Mathew, Pagnamenta Alistair T, Taylor Jenny C, Palace Jacqueline, Beeson David

Abstract excerpt

SLC5A7 encodes the presynaptic sodium-dependant high-affinity choline transporter 1 (CHT), which uptakes choline to the presynaptic nerve terminal following the breakdown of acetylcholine by the acetylcholinesterase within the synaptic cleft. We report 5 patients from three consanguineous families with congenital myasthenic syndrome type 20 caused by novel mutations in SLC5A7. The individuals from family 1 and 2...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 33250374
DOI: 10.1016/j.nmd.2020.10.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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