Article
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
Neurology - 4 Oct 2016
O'Grady Gina L, Verschuuren Corien, Yuen Michaela, Webster Richard, Menezes Manoj, Fock Johanna M, Pride Natalie, Best Heather A, Benavides Damm Tatiana, Turner Christian, Lek Monkol, Engel Andrew G, North Kathryn N, Clarke Nigel F, MacArthur Daniel G, Kamsteeg Erik-Jan, Cooper Sandra T
Abstract excerpt
OBJECTIVE: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. METHODS: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing. RESULTS: The patients demonstrated features seen in presynaptic congenital...
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