Ontology highlight
ABSTRACT:
SUBMITTER: Wang H
PROVIDER: S-EPMC5844214 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Wang Haicui H Salter Claire G CG Refai Osama O Hardy Holly H Barwick Katy E S KES Akpulat Ugur U Kvarnung Malin M Chioza Barry A BA Harlalka Gaurav G Taylan Fulya F Sejersen Thomas T Wright Jane J Zimmerman Holly H HH Karakaya Mert M Stüve Burkhardt B Weis Joachim J Schara Ulrike U Russell Mark A MA Abdul-Rahman Omar A OA Chilton John J Blakely Randy D RD Baple Emma L EL Cirak Sebahattin S Crosby Andrew H AH
Brain : a journal of neurology 20171101 11
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 syndrome presenting with a broad clinical phenotype due to homozygous choline transporter missense mutations. The clinical phenotype ranges from the classical presentation of a congenital myasthenic syndrom ...[more]