Article
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
Proceedings of the National Academy of Sciences of the United States of America - 13 Feb 2001
Ohno K, Tsujino A, Brengman J M, Harper C M, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham F J, Engel A G
Abstract excerpt
Choline acetyltransferase (ChAT; EC ) 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 humans to date. Here we report that mutations in CHAT cause a congenital myasthenic syndrome associated with frequently...
Topics
- Adult
- Amino Acid Sequence
- Animals
- Apnea
- Bungarotoxins
- COS Cells
- Child
- Child, Preschool
- Chlorocebus aethiops
- Choline O-Acetyltransferase
- Escherichia coli
- Female
- Humans
- Kinetics