Endplate acetylcholinesterase deficiency

Common Name(s)

Endplate acetylcholinesterase deficiency

Congenital myasthenic syndromes (CMS) are genetic disorders of the neuromuscular junction that can be classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. Endplate AChE deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction. For a discussion of genetic heterogeneity of CMS, see {608931}.
 

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Condition Specific Organizations

Following organizations serve the condition "Endplate acetylcholinesterase deficiency" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Endplate acetylcholinesterase deficiency" returned 3 free, full-text research articles on human participants. First 3 results:

Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.
 

Author(s): Teerin Liewluck, Duygu Selcen, Andrew G Engel

Journal: Muscle Nerve. 2011 Nov;44(5):789-94.

 

Congenital myasthenic syndromes (CMS) are disabling but treatable disorders. Anticholinesterase therapy is effective in most of them, but is contraindicated in endplate (EP) acetylcholinesterase (AChE) deficiency, the slow-channel syndrome, Dok-7 myasthenia, and β(2) -laminin deficiency, ...

Last Updated: 18 Oct 2011

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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.
 

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

Journal: Hum. Mol. Genet.. 2008 Oct;17(20):3166-79.

 

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 ...

Last Updated: 2 Oct 2008

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Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.
 

Author(s): K Ohno, J Brengman, A Tsujino, A G Engel

Journal: Proc. Natl. Acad. Sci. U.S.A.. 1998 Aug;95(16):9654-9.

 

In skeletal muscle, acetylcholinesterase (AChE) exists in homomeric globular forms of type T catalytic subunits (ACHET) and heteromeric asymmetric forms composed of 1, 2, or 3 tetrameric ACHET attached to a collagenic tail (ColQ). Asymmetric AChE is concentrated at the endplate (EP), ...

Last Updated: 8 Sep 1998

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Reviews from the PubMed Database

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