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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 neuromyoton...

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Source

Identifiers

PMID: 18647752
DOI: 10.1093/hmg/ddn213

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18647752-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 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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