Congenital myasthenic syndromes

Posted by & filed under Part 21: MEMBRANE TRANSPORT DISORDERS, Part 25: MUSCLE.

Science. 2006 Sep 29;313(5795):1975-8.

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Muller JS, Lochmuller H, Slater C, Vincent A, Yamanashi Y.

 

A new gene involved in a congenital myasthenic syndrome, in this case with proximal muscle weakness, has been identified. It was found earlier this year that dok-7 knock-out mice could not form acetylcholine receptor clusters nor neuromuscular synapses.

 

 

Science 23 June 2006 312: 1802-1805

The Muscle Protein Dok-7 Is Essential for Neuromuscular Synaptogenesis

Kumiko Okada, Akane Inoue, Momoko Okada, Yoji Murata, Shigeru Kakuta, Takafumi Jigami, Sachiko Kubo, Hirokazu Shiraishi, Katsumi Eguchi, Masakatsu Motomura, Tetsu Akiyama, Yoichiro Iwakura, Osamu Higuchi, and Yuji Yamanashi
 

The next step was to screen patients with congenital mysthenic syndromes for mutations in the gene encoding dok-7.
For a review of congenital mysthenic syndromes, see this article by Andrew Engel:

 

Curr Opin Pharmacol. 2005 Jun;5(3):308-21.

Current understanding of congenital myasthenic syndromes.

Engel AG, Sine SM
 

For a review of channelopathies, please see chapter 204 of OMMBID.

Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

 

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