Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

Choline acetyltransferase (ChAT; EC 2.3.1.6) catalyzes the reversible synthesis of acetylcholine (ACh) from acetyl CoA and choline at cholinergic synapses. Mutations in genes encoding ChAT affecting motility exist in Caenorhabditis elegans and Drosophila, but no CHAT mutations have been observed in...

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Main Authors: Ohno, Kinji, Tsujino, Akira, Brengman, Joan M., Harper, C. Michel, Bajzer, Zeljko, Udd, Bjarne, Beyring, Roger, Robb, Stephanie, Kirkham, Fenella J., Engel, Andrew G.
Format: Artigo
Jezik:Inglês
Izdano: The National Academy of Sciences 2001
Teme:
Biological Sciences
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC29374/
https://ncbi.nlm.nih.gov/pubmed/11172068
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