Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

The presynaptic, high-affinity choline transporter is a critical determinant of signalling by the neurotransmitter acetylcholine at both central and peripheral cholinergic synapses, including the neuromuscular junction. Here we describe an autosomal recessive presynaptic congenital myasthenic syndro...

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Main Authors: Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H
Format: Text
Language:English
Published: Oxford University Press 2017
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC5844214/
https://pubmed.ncbi.nlm.nih.gov/29088354
http://dx.doi.org/10.1093/brain/awx249
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https://pmc.ncbi.nlm.nih.gov/articles/PMC5844214/
https://pubmed.ncbi.nlm.nih.gov/29088354
http://dx.doi.org/10.1093/brain/awx249

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