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Article

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.

Human molecular genetics - 15 Oct 2008

Stum Morgane, Girard Emmanuelle, Bangratz Marie, Bernard Véronique, Herbin Marc, Vignaud Alban, Ferry Arnaud, Davoine Claire-Sophie, Echaniz-Laguna Andoni, René Frédérique, Marcel Christophe, Molgó Jordi, Fontaine Bertrand, Krejci Eric, Nicole Sophie

Abstract excerpt

Schwartz-Jampel syndrome (SJS) is a recessive neuromyotonia with chondrodysplasia. It results from hypomorphic mutations of the gene encoding perlecan, leading to a decrease in the levels of this heparan sulphate proteoglycan in basement membranes (BMs). It has been suggested that SJS neuromyotonia may result from endplate acetylcholinesterase (AChE) deficiency, but this hypothesis has never been investigated in...

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

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Identifiers

PMID: 18647752
DOI: 10.1093/hmg/ddn213

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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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Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.PMID 18647752Read ↗

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