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Article

Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits.

The Journal of clinical investigation - 1 Jan 1995

Camp S, Bon S, Li Y, Getman D K, Engel A G, Massoulié J, Taylor P

Abstract excerpt

A congenital myasthenic condition has been described in several patients characterized by a deficiency in end-plate acetylcholinesterase (AChE). The characteristic form of AChE in the end-plate basal lamina has the catalytic subunits disulfide linked to a collagen-like tail unit. Southern analysis of the gene encoding the catalytic subunits revealed no differences between patient and control DNA. Genomic DNA...

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Identifiers

PMID: 7814634
DOI: 10.1172/JCI117661
PMCID: PMC295436

Genes

ACHE

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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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