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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: The National Academy of Sciences 2001
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC29374/
https://ncbi.nlm.nih.gov/pubmed/11172068
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