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Article

Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.

Human molecular genetics - 20 Apr 2023

Rizvi Midhat, Truong Tina K, Zhou Janet, Batta Manav, Moran Ellen S, Pappas John, Chu Mary Lynn, Caluseriu Oana, Evrony Gilad D, Leslie Elaine M, Cordat Emmanuelle

Abstract excerpt

Congenital myasthenic syndrome (CMS) is a heterogeneous condition associated with 34 different genes, including SLC5A7, which encodes the high-affinity choline transporter 1 (CHT1). CHT1 is expressed in presynaptic neurons of the neuromuscular junction where it uses the inward sodium gradient to reuptake choline. Biallelic CHT1 mutations often lead to neonatal lethality, and less commonly to non-lethal motor...

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PMID: 36611016
DOI: 10.1093/hmg/ddac309

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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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